Canonical Allele Identifier: CA213117

Gene:

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.624523C>A , CM000686.2:g.624523C>A	GRCh38
NC_000024.9:g.535258C>A , CM000686.1:g.535258C>A	GRCh37
NC_000024.8:g.505258C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711143.1:c.-512C>A	ENSP00000518641.1:n.-512C>A
ENST00000711145.1:c.-512C>A	ENSP00000518642.1:n.-512C>A