Canonical Allele Identifier: CA127231972

Gene:

Linked Data

• dbSNP Id: rs887342271
• gnomAD v3: 5-126002787-G-A
• gnomAD v4: 5-126002787-G-A
• MyVariant Identifiers: chr5:g.125338480G>A (hg19) ; chr5:g.126002787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002787G>A , CM000667.2:g.126002787G>A	GRCh38
NC_000005.9:g.125338480G>A , CM000667.1:g.125338480G>A	GRCh37
NC_000005.8:g.125366379G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948737.1:n.565+3553C>T
XR_948738.1:n.497+5753C>T