Canonical Allele Identifier: CA377939933

Gene: CYP17A1

Linked Data

• ClinVar Variation Id: 1909170
• ClinVar RCV Id: RCV002600125
• MyVariant Identifiers: chr10:g.104594638A>T (hg19) ; chr10:g.102834881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102834881A>T , CM000672.2:g.102834881A>T	GRCh38
NC_000010.10:g.104594638A>T , CM000672.1:g.104594638A>T	GRCh37
NC_000010.9:g.104584628A>T	NCBI36
NG_007955.1:g.7653T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369887.4:c.570T>A MANE Select	ENSP00000358903.3:p.Asn190Lys
ENST00000638190.1:c.570T>A	ENSP00000492539.1:p.Asn190Lys
ENST00000638272.1:c.298-1673T>A	ENSP00000491508.1:n.298-1673T>A
ENST00000638971.1:c.570T>A	ENSP00000492313.1:p.Asn190Lys
ENST00000639393.1:c.570T>A	ENSP00000492651.1:p.Asn190Lys
ENST00000640633.1:n.332T>A
ENST00000369887.3:c.570T>A	ENSP00000358903.3:p.Asn190Lys
ENST00000489268.1:n.824T>A
NM_000102.3:c.570T>A	NP_000093.1:p.Asn190Lys
NM_000102.4:c.570T>A MANE Select	NP_000093.1:p.Asn190Lys