Canonical Allele Identifier: CA5669342
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI

Linked Data

ClinVar Variation Id: 1457632
ClinVar RCV Id: RCV001953856
dbSNP Id: rs757083287
ExAC: 10:104590680 C / T
gnomAD v2: 10-104590680-C-T
gnomAD v3: 10-102830923-C-T
gnomAD v4: 10-102830923-C-T
MyVariant Identifiers: chr10:g.104590680C>T (hg19) chr10:g.102830923C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102830923C>T , CM000672.2:g.102830923C>T GRCh38
NC_000010.10:g.104590680C>T , CM000672.1:g.104590680C>T GRCh37
NC_000010.9:g.104580670C>T NCBI36
NG_007955.1:g.11611G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.1306G>A (CYP17A1) MANE Select ENSP00000358903.3:p.Gly436Arg
ENST00000638190.1:c.1003G>A (CYP17A1) ENSP00000492539.1:p.Gly335Arg
ENST00000638272.1:c.850G>A (CYP17A1) ENSP00000491508.1:p.Gly284Arg
ENST00000638971.1:c.1219G>A (CYP17A1) ENSP00000492313.1:p.Gly407Arg
ENST00000639393.1:c.1309G>A (CYP17A1) ENSP00000492651.1:p.Gly437Arg
ENST00000640633.1:n.1068G>A (CYP17A1)
ENST00000647664.1:c.*605C>T (WBP1L) ENSP00000498131.1:n.*605C>T
ENST00000369887.3:c.1306G>A (CYP17A1) ENSP00000358903.3:p.Gly436Arg
NM_000102.3:c.1306G>A (CYP17A1) NP_000093.1:p.Gly436Arg
NM_000102.4:c.1306G>A (CYP17A1) MANE Select NP_000093.1:p.Gly436Arg
Search 100 bp 5'
Search 100 bp 3'