Linked Data
dbSNP Id:
rs1378078150
gnomAD v2:
22-43089539-T-G
gnomAD v3:
22-42693533-T-G
gnomAD v4:
22-42693533-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42693533T>G , CM000684.2:g.42693533T>G | GRCh38 |
| NC_000022.10:g.43089539T>G , CM000684.1:g.43089539T>G | GRCh37 |
| NC_000022.9:g.41419483T>G | NCBI36 |
| NG_007495.1:g.32338A>C | |
| NG_007495.2:g.32769A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686129.1:c.-49+27264A>C (CYB5R3) | ENSP00000508623.1:n.-49+27264A>C | |
| ENST00000249005.3:c.419A>C (A4GALT) | ENSP00000249005.2:p.Gln140Pro | |
| ENST00000381278.4:c.419A>C (A4GALT) | ENSP00000370678.3:p.Gln140Pro | |
| ENST00000642412.2:c.419A>C (A4GALT) MANE Select | ENSP00000494127.1:p.Gln140Pro | |
| ENST00000249005.2:c.419A>C (A4GALT) | ENSP00000249005.2:p.Gln140Pro | |
| ENST00000381278.3:c.419A>C (A4GALT) | ENSP00000370678.3:p.Gln140Pro | |
| ENST00000401850.5:c.419A>C (A4GALT) | ENSP00000384794.1:p.Gln140Pro | |
| NM_017436.4:c.419A>C (A4GALT) | NP_059132.1:p.Gln140Pro | |
| XM_005261643.1:c.419A>C (A4GALT) | XP_005261700.1:p.Gln140Pro | |
| XM_005261644.1:c.419A>C (A4GALT) | XP_005261701.1:p.Gln140Pro | |
| XM_005261646.3:c.419A>C (A4GALT) | XP_005261703.1:p.Gln140Pro | |
| XM_005261647.1:c.419A>C (A4GALT) | XP_005261704.1:p.Gln140Pro | |
| XM_005261648.2:c.419A>C (A4GALT) | XP_005261705.1:p.Gln140Pro | |
| XM_006724265.2:c.419A>C (A4GALT) | XP_006724328.1:p.Gln140Pro | |
| XM_006724266.2:c.419A>C (A4GALT) | XP_006724329.1:p.Gln140Pro | |
| XM_011530233.1:c.419A>C (A4GALT) | XP_011528535.1:p.Gln140Pro | |
| XM_011530234.1:c.419A>C (A4GALT) | XP_011528536.1:p.Gln140Pro | |
| NM_001318038.2:c.419A>C (A4GALT) | NP_001304967.1:p.Gln140Pro | |
| NM_017436.6:c.419A>C (A4GALT) | NP_059132.1:p.Gln140Pro | |
| XM_005261644.2:c.419A>C (A4GALT) | XP_005261701.1:p.Gln140Pro | |
| XM_005261646.4:c.419A>C (A4GALT) | XP_005261703.1:p.Gln140Pro | |
| XM_005261647.3:c.419A>C (A4GALT) | XP_005261704.1:p.Gln140Pro | |
| XM_005261648.4:c.419A>C (A4GALT) | XP_005261705.1:p.Gln140Pro | |
| XM_006724265.3:c.419A>C (A4GALT) | XP_006724328.1:p.Gln140Pro | |
| XM_006724266.3:c.419A>C (A4GALT) | XP_006724329.1:p.Gln140Pro | |
| XM_011530233.2:c.419A>C (A4GALT) | XP_011528535.1:p.Gln140Pro | |
| XM_017028831.1:c.419A>C (A4GALT) | XP_016884320.1:p.Gln140Pro | |
| NM_017436.7:c.419A>C (A4GALT) MANE Select | NP_059132.1:p.Gln140Pro | |
| NM_001318038.3:c.419A>C (A4GALT) | NP_001304967.1:p.Gln140Pro |