gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6184258 (AFR)
Genomes Max Group AF
0.6184258 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.114270822A>G , CM000668.2:g.114270822A>G | GRCh38 |
| NC_000006.11:g.114591986A>G , CM000668.1:g.114591986A>G | GRCh37 |
| NC_000006.10:g.114698679A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312719.10:c.-338-42044T>C (HS3ST5) MANE Select | ENSP00000427888.1:n.-338-42044T>C | |
| ENST00000312719.9:c.-338-42044T>C (HS3ST5) | ENSP00000427888.1:n.-338-42044T>C | |
| NR_125845.1:n.1799+35051A>G (HDAC2-AS2) | ||
| XM_006715379.2:c.-338-42044T>C (HS3ST5) | XP_006715442.1:n.-338-42044T>C | |
| XM_011535587.1:c.-338-42044T>C (HS3ST5) | XP_011533889.1:n.-338-42044T>C | |
| XR_942347.1:n.240-42044T>C (HS3ST5) | ||
| XM_017010470.1:c.-338-42044T>C (HS3ST5) | XP_016865959.1:n.-338-42044T>C | |
| XM_017010473.1:c.-334-42044T>C (HS3ST5) | XP_016865962.1:n.-334-42044T>C | |
| XM_017010474.2:c.-334-42044T>C (HS3ST5) | XP_016865963.1:n.-334-42044T>C | |
| NM_001387039.1:c.-226-42044T>C (HS3ST5) | NP_001373968.1:n.-226-42044T>C | |
| NM_001387040.1:c.-33+71373T>C (HS3ST5) | NP_001373969.1:n.-33+71373T>C | |
| NM_001387041.1:c.-334-42044T>C (HS3ST5) | NP_001373970.1:n.-334-42044T>C | |
| NM_001387042.1:c.-338-42044T>C (HS3ST5) | NP_001373971.1:n.-338-42044T>C | |
| NM_001387043.1:c.-334-42044T>C (HS3ST5) | NP_001373972.1:n.-334-42044T>C | |
| NM_001387044.1:c.-428-42044T>C (HS3ST5) | NP_001373973.1:n.-428-42044T>C | |
| NM_001387045.1:c.-433-42044T>C (HS3ST5) | NP_001373974.1:n.-433-42044T>C | |
| NM_001387046.1:c.-226-42044T>C (HS3ST5) | NP_001373975.1:n.-226-42044T>C | |
| NM_001387047.1:c.-433-42044T>C (HS3ST5) | NP_001373976.1:n.-433-42044T>C | |
| NM_153612.4:c.-338-42044T>C (HS3ST5) MANE Select | NP_705840.2:n.-338-42044T>C |