Linked Data
dbSNP Id:
rs1844079011
gnomAD v4:
10-102830909-G-T
MyVariant Identifiers:
chr10:g.104590666G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830909G>T , CM000672.2:g.102830909G>T | GRCh38 |
| NC_000010.10:g.104590666G>T , CM000672.1:g.104590666G>T | GRCh37 |
| NC_000010.9:g.104580656G>T | NCBI36 |
| NG_007955.1:g.11625C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1320C>A (CYP17A1) MANE Select | ENSP00000358903.3:p.Arg440= | |
| ENST00000638190.1:c.1017C>A (CYP17A1) | ENSP00000492539.1:p.Arg339= | |
| ENST00000638272.1:c.864C>A (CYP17A1) | ENSP00000491508.1:p.Arg288= | |
| ENST00000638971.1:c.1233C>A (CYP17A1) | ENSP00000492313.1:p.Arg411= | |
| ENST00000639393.1:c.1323C>A (CYP17A1) | ENSP00000492651.1:p.Arg441= | |
| ENST00000640633.1:n.1082C>A (CYP17A1) | ||
| ENST00000647664.1:c.*591G>T (WBP1L) | ENSP00000498131.1:n.*591G>T | |
| ENST00000369887.3:c.1320C>A (CYP17A1) | ENSP00000358903.3:p.Arg440= | |
| NM_000102.3:c.1320C>A (CYP17A1) | NP_000093.1:p.Arg440= | |
| NM_000102.4:c.1320C>A (CYP17A1) MANE Select | NP_000093.1:p.Arg440= |