Canonical Allele Identifier: CA128821

Gene:

Linked Data

• dbSNP Id: rs397514461
• MyVariant Identifiers: chrY:g.551577G>C (hg19) ; chrY:g.640842G>C (hg38)
• PubMed: PMID:21712857

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.640842G>C , CM000686.2:g.640842G>C	GRCh38
NC_000024.9:g.551577G>C , CM000686.1:g.551577G>C	GRCh37
NC_000024.8:g.521577G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.508G>C	ENSP00000518639.1:p.Ala170Pro
ENST00000711142.1:c.508G>C	ENSP00000518640.1:p.Ala170Pro
ENST00000711143.1:c.508G>C	ENSP00000518641.1:p.Ala170Pro
ENST00000711145.1:c.508G>C	ENSP00000518642.1:p.Ala170Pro