Canonical Allele Identifier: CA815487974

Gene:

Linked Data

• dbSNP Id: rs1249693440
• gnomAD v3: 5-92222768-C-A
• gnomAD v4: 5-92222768-C-A
• MyVariant Identifiers: chr5:g.91518585C>A (hg19) ; chr5:g.92222768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.92222768C>A , CM000667.2:g.92222768C>A	GRCh38
NC_000005.9:g.91518585C>A , CM000667.1:g.91518585C>A	GRCh37
NC_000005.8:g.91554341C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948565.1:n.394+18084C>A