Canonical Allele Identifier: CA121722131

Gene:

Linked Data

• dbSNP Id: rs956599096
• gnomAD v3: 5-79550077-A-C
• gnomAD v4: 5-79550077-A-C
• MyVariant Identifiers: chr5:g.78845900A>C (hg19) ; chr5:g.79550077A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79550077A>C , CM000667.2:g.79550077A>C	GRCh38
NC_000005.9:g.78845900A>C , CM000667.1:g.78845900A>C	GRCh37
NC_000005.8:g.78881656A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2433A>C
XR_948498.1:n.159+2240A>C
XR_948499.1:n.67+1775A>C
XR_948497.2:n.72+2433A>C
XR_948498.2:n.159+2240A>C
XR_948499.2:n.225+1775A>C