Canonical Allele Identifier: CA259733

Gene:

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.640843C>A , CM000686.2:g.640843C>A	GRCh38
NC_000024.9:g.551578C>A , CM000686.1:g.551578C>A	GRCh37
NC_000024.8:g.521578C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.509C>A	ENSP00000518639.1:p.Ala170Asp
ENST00000711142.1:c.509C>A	ENSP00000518640.1:p.Ala170Asp
ENST00000711143.1:c.509C>A	ENSP00000518641.1:p.Ala170Asp
ENST00000711145.1:c.509C>A	ENSP00000518642.1:p.Ala170Asp