Canonical Allele Identifier: CA213425

Gene:

Linked Data

• ClinVar Variation Id: 9872
• ClinVar RCV Id: RCV000010547 ; RCV000596801 ; RCV002247313
• dbSNP Id: rs137852552
• MyVariant Identifiers: chrY:g.551772C>T (hg19) ; chrY:g.641037C>T (hg38)
• PubMed: PMID:9140395 ; PMID:11889216 ; PMID:15118270

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.641037C>T , CM000686.2:g.641037C>T	GRCh38
NC_000024.9:g.551772C>T , CM000686.1:g.551772C>T	GRCh37
NC_000024.8:g.521772C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000711141.1:c.583C>T	ENSP00000518639.1:p.Arg195Ter
ENST00000711142.1:c.583C>T	ENSP00000518640.1:p.Arg195Ter
ENST00000711143.1:c.583C>T	ENSP00000518641.1:p.Arg195Ter
ENST00000711145.1:c.583C>T	ENSP00000518642.1:p.Arg195Ter