Canonical Allele Identifier: CA5669423
Gene: CYP17A1 HGNC NCBI
WBP1L HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.102832665A>T
GRCh37 chr10:g.104592422A>T
Revel Score:
ENST00000369887 (MANE Select) 0.347
gnomAD v2:
10:104592422 A / T
gnomAD v3:
10:102832665 A / T
gnomAD v4:
chr10-102832665-A-T
Joint Max Group AF 0.00015409 (EAS)
Genomes Max Group AF 0.00063405 (EAS)
Exomes Max Group AF 0.00004911 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102832665A>T , CM000672.2:g.102832665A>T GRCh38
NC_000010.10:g.104592422A>T , CM000672.1:g.104592422A>T GRCh37
NC_000010.9:g.104582412A>T NCBI36
NG_007955.1:g.9869T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.985T>A (CYP17A1) MANE Select ENSP00000358903.3:p.Tyr329Asn
ENST00000638190.1:c.682T>A (CYP17A1) ENSP00000492539.1:p.Tyr228Asn
ENST00000638272.1:c.529T>A (CYP17A1) ENSP00000491508.1:p.Tyr177Asn
ENST00000638971.1:c.898T>A (CYP17A1) ENSP00000492313.1:p.Tyr300Asn
ENST00000639393.1:c.985T>A (CYP17A1) ENSP00000492651.1:p.Tyr329Asn
ENST00000640633.1:n.747T>A (CYP17A1)
ENST00000647664.1:c.*1696A>T (WBP1L) ENSP00000498131.1:n.*1696A>T
ENST00000369887.3:c.985T>A (CYP17A1) ENSP00000358903.3:p.Tyr329Asn
NM_000102.3:c.985T>A (CYP17A1) NP_000093.1:p.Tyr329Asn
NM_000102.4:c.985T>A (CYP17A1) MANE Select NP_000093.1:p.Tyr329Asn
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