Canonical Allele Identifier: CA5669618
Gene: CYP17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1929650
ClinVar RCV Id: RCV002626395
dbSNP Id: rs747750444
ExAC: 10:104596858 A / G
gnomAD v2: 10-104596858-A-G
gnomAD v4: 10-102837101-A-G
MyVariant Identifiers: chr10:g.104596858A>G (hg19) chr10:g.102837101A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102837101A>G , CM000672.2:g.102837101A>G GRCh38
NC_000010.10:g.104596858A>G , CM000672.1:g.104596858A>G GRCh37
NC_000010.9:g.104586848A>G NCBI36
NG_007955.1:g.5433T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369887.4:c.261T>C MANE Select ENSP00000358903.3:p.Ile87=
ENST00000638190.1:c.261T>C ENSP00000492539.1:p.Ile87=
ENST00000638272.1:c.261T>C ENSP00000491508.1:p.Ile87=
ENST00000638971.1:c.261T>C ENSP00000492313.1:p.Ile87=
ENST00000639393.1:c.261T>C ENSP00000492651.1:p.Ile87=
ENST00000369887.3:c.261T>C ENSP00000358903.3:p.Ile87=
ENST00000489268.1:n.314T>C
NM_000102.3:c.261T>C NP_000093.1:p.Ile87=
NM_000102.4:c.261T>C MANE Select NP_000093.1:p.Ile87=
Search 100 bp 5'
Search 100 bp 3'