Canonical Allele Identifier: CA127231927

Gene:

Linked Data

• dbSNP Id: rs772132970
• gnomAD v3: 5-126002715-G-C
• gnomAD v4: 5-126002715-G-C
• MyVariant Identifiers: chr5:g.125338408G>C (hg19) ; chr5:g.126002715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002715G>C , CM000667.2:g.126002715G>C	GRCh38
NC_000005.9:g.125338408G>C , CM000667.1:g.125338408G>C	GRCh37
NC_000005.8:g.125366307G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948737.1:n.565+3625C>G
XR_948738.1:n.497+5825C>G