Canonical Allele Identifier: CA115203
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.102830982C>T
GRCh37 chr10:g.104590739C>T
Revel Score:
ENST00000369887 (MANE Select) 0.866
gnomAD v2:
10:104590739 C / T
gnomAD v3:
10:102830982 C / T
gnomAD v4:
chr10-102830982-C-T
Joint Max Group AF 0.00001567 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0000141 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102830982C>T , CM000672.2:g.102830982C>T GRCh38
NC_000010.10:g.104590739C>T , CM000672.1:g.104590739C>T GRCh37
NC_000010.9:g.104580729C>T NCBI36
NG_007955.1:g.11552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.1247G>A (CYP17A1) MANE Select ENSP00000358903.3:p.Arg416His
ENST00000638190.1:c.944G>A (CYP17A1) ENSP00000492539.1:p.Arg315His
ENST00000638272.1:c.791G>A (CYP17A1) ENSP00000491508.1:p.Arg264His
ENST00000638971.1:c.1160G>A (CYP17A1) ENSP00000492313.1:p.Arg387His
ENST00000639393.1:c.1250G>A (CYP17A1) ENSP00000492651.1:p.Arg417His
ENST00000640633.1:n.1009G>A (CYP17A1)
ENST00000647664.1:c.*628+36C>T (WBP1L) ENSP00000498131.1:n.*628+36C>T
ENST00000369887.3:c.1247G>A (CYP17A1) ENSP00000358903.3:p.Arg416His
ENST00000469683.1:n.200G>A (CYP17A1)
NM_000102.3:c.1247G>A (CYP17A1) NP_000093.1:p.Arg416His
NM_000102.4:c.1247G>A (CYP17A1) MANE Select NP_000093.1:p.Arg416His
Search 100 bp 5'
Search 100 bp 3'