Linked Data
dbSNP Id:
rs1214312544
gnomAD v2:
4-77030157-C-T
gnomAD v3:
4-76109004-C-T
gnomAD v4:
4-76109004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76109004C>T , CM000666.2:g.76109004C>T | GRCh38 |
| NC_000004.11:g.77030157C>T , CM000666.1:g.77030157C>T | GRCh37 |
| NC_000004.10:g.77249181C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000511188.2:c.1069+1211C>T (ART3) | ENSP00000422249.2:n.1069+1211C>T | |
| ENST00000695546.1:c.*4933G>A (NUP54) | ENSP00000512003.1:n.*4933G>A | |
| ENST00000700440.1:c.938-3382C>T (ART3) | ENSP00000514989.1:n.938-3382C>T | |
| ENST00000355810.9:c.1036+1211C>T (ART3) MANE Select | ENSP00000348064.4:n.1036+1211C>T | |
| ENST00000341029.9:c.971-3382C>T (ART3) | ENSP00000343843.5:n.971-3382C>T | |
| ENST00000349321.7:c.1003+1211C>T (ART3) | ENSP00000304313.5:n.1003+1211C>T | |
| ENST00000355810.8:c.1036+1211C>T (ART3) | ENSP00000348064.4:n.1036+1211C>T | |
| ENST00000395688.7:n.172-3382C>T (ART3) | ||
| ENST00000504112.5:n.268-3382C>T (ART3) | ||
| ENST00000506313.1:n.259+1211C>T (ART3) | ||
| ENST00000506667.5:n.235-3382C>T (ART3) | ||
| ENST00000510669.5:n.389-2903C>T (ART3) | ||
| ENST00000510863.1:n.578+1211C>T (ART3) | ||
| ENST00000511188.1:c.325+1211C>T (ART3) | ENSP00000422249.1:n.325+1211C>T | |
| NM_001130016.2:c.1036+1211C>T (ART3) | NP_001123488.1:n.1036+1211C>T | |
| NM_001130017.2:c.971-3382C>T (ART3) | NP_001123489.1:n.971-3382C>T | |
| NM_001179.5:c.1003+1211C>T (ART3) | NP_001170.2:n.1003+1211C>T | |
| XM_005262997.1:c.1069+1211C>T (ART3) | XP_005263054.1:n.1069+1211C>T | |
| XM_005262999.1:c.1004-3382C>T (ART3) | XP_005263056.1:n.1004-3382C>T | |
| XM_005263003.1:c.941-3382C>T (ART3) | XP_005263060.1:n.941-3382C>T | |
| XM_005263004.1:c.938-3382C>T (ART3) | XP_005263061.1:n.938-3382C>T | |
| XM_006714218.1:c.1039+1211C>T (ART3) | XP_006714281.1:n.1039+1211C>T | |
| XM_006714220.1:c.973+1211C>T (ART3) | XP_006714283.1:n.973+1211C>T | |
| XM_011531967.1:c.1037-932C>T (ART3) | XP_011530269.1:n.1037-932C>T | |
| XM_011531968.1:c.1007-932C>T (ART3) | XP_011530270.1:n.1007-932C>T | |
| XM_011531969.1:c.974-932C>T (ART3) | XP_011530271.1:n.974-932C>T | |
| XM_011531970.1:c.947-932C>T (ART3) | XP_011530272.1:n.947-932C>T | |
| XM_011531971.1:c.974-3382C>T (ART3) | XP_011530273.1:n.974-3382C>T | |
| XM_017008210.2:c.914-3382C>T (ART3) | XP_016863699.1:n.914-3382C>T | |
| XM_024454055.1:c.1069+1211C>T (ART3) | XP_024309823.1:n.1069+1211C>T | |
| XM_024454056.1:c.1006+1211C>T (ART3) | XP_024309824.1:n.1006+1211C>T | |
| XM_024454057.1:c.1004-3382C>T (ART3) | XP_024309825.1:n.1004-3382C>T | |
| XM_024454058.1:c.974-3382C>T (ART3) | XP_024309826.1:n.974-3382C>T | |
| XM_024454059.1:c.973+1211C>T (ART3) | XP_024309827.1:n.973+1211C>T | |
| XM_024454060.1:c.971-3382C>T (ART3) | XP_024309828.1:n.971-3382C>T | |
| XM_024454061.1:c.941-3382C>T (ART3) | XP_024309829.1:n.941-3382C>T | |
| XM_024454062.1:c.938-3382C>T (ART3) | XP_024309830.1:n.938-3382C>T | |
| XM_024454063.1:c.938-3382C>T (ART3) | XP_024309831.1:n.938-3382C>T | |
| XR_002959732.1:n.2393-3382C>T (ART3) | ||
| XR_002959733.1:n.2834-3382C>T (ART3) | ||
| NM_001130016.3:c.1036+1211C>T (ART3) MANE Select | NP_001123488.1:n.1036+1211C>T | |
| NM_001130017.3:c.971-3382C>T (ART3) | NP_001123489.1:n.971-3382C>T | |
| NM_001179.6:c.1003+1211C>T (ART3) | NP_001170.2:n.1003+1211C>T | |
| NM_001377173.1:c.1069+1211C>T (ART3) | NP_001364102.1:n.1069+1211C>T | |
| NM_001377174.1:c.1004-3382C>T (ART3) | NP_001364103.1:n.1004-3382C>T | |
| NM_001377175.1:c.971-3382C>T (ART3) | NP_001364104.1:n.971-3382C>T | |
| NM_001377176.1:c.941-3382C>T (ART3) | NP_001364105.1:n.941-3382C>T | |
| NM_001377177.1:c.908-3382C>T (ART3) | NP_001364106.1:n.908-3382C>T | |
| NM_001377178.1:c.908-3382C>T (ART3) | NP_001364107.1:n.908-3382C>T | |
| NM_001377179.1:c.908-3382C>T (ART3) | NP_001364108.1:n.908-3382C>T | |
| NM_001377180.1:c.875-3382C>T (ART3) | NP_001364109.1:n.875-3382C>T | |
| NM_001377181.1:c.848-3382C>T (ART3) | NP_001364110.1:n.848-3382C>T | |
| NM_001377182.1:c.848-3382C>T (ART3) | NP_001364111.1:n.848-3382C>T | |
| NM_001377183.1:c.815-3382C>T (ART3) | NP_001364112.1:n.815-3382C>T | |
| NM_001377184.1:c.815-3382C>T (ART3) | NP_001364113.1:n.815-3382C>T | |
| NM_001377185.1:c.782-3382C>T (ART3) | NP_001364114.1:n.782-3382C>T |