Canonical Allele Identifier: CA5669507
Gene: CYP17A1 HGNC NCBI
COSMIC:
COSN15303201 (not active)
COSN15322410 (not active)
gnomAD v2:
10:104594507 A / G
gnomAD v3:
10:102834750 A / G
gnomAD v4:
chr10-102834750-A-G
Joint Max Group AF 0.32608849 (EAS)
Genomes Max Group AF 0.32996724 (EAS)
Exomes Max Group AF 0.32416206 (EAS)
ClinVar RCV:
RCV001533633
RCV001673142
ClinVar Variation:
1177609
dbSNP:
1004467
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102834750A>G , CM000672.2:g.102834750A>G GRCh38
NC_000010.10:g.104594507A>G , CM000672.1:g.104594507A>G GRCh37
NC_000010.9:g.104584497A>G NCBI36
NG_007955.1:g.7784T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369887.4:c.666+35T>C MANE Select ENSP00000358903.3:n.666+35T>C
ENST00000638190.1:c.666+35T>C ENSP00000492539.1:n.666+35T>C
ENST00000638272.1:c.298-1542T>C ENSP00000491508.1:n.298-1542T>C
ENST00000638971.1:c.666+35T>C ENSP00000492313.1:n.666+35T>C
ENST00000639393.1:c.666+35T>C ENSP00000492651.1:n.666+35T>C
ENST00000640633.1:n.428+35T>C
ENST00000369887.3:c.666+35T>C ENSP00000358903.3:n.666+35T>C
ENST00000489268.1:n.955T>C
NM_000102.3:c.666+35T>C NP_000093.1:n.666+35T>C
NM_000102.4:c.666+35T>C MANE Select NP_000093.1:n.666+35T>C
Search 100 bp 5'
Search 100 bp 3'