Canonical Allele Identifier: CA812366332

Gene:

Linked Data

• dbSNP Id: rs1194204771
• gnomAD v3: 5-56899991-G-A
• gnomAD v4: 5-56899991-G-A
• MyVariant Identifiers: chr5:g.56195818G>A (hg19) ; chr5:g.56899991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56899991G>A , CM000667.2:g.56899991G>A	GRCh38
NC_000005.9:g.56195818G>A , CM000667.1:g.56195818G>A	GRCh37
NC_000005.8:g.56231575G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948346.1:n.83-1695C>T
XR_948347.1:n.76+6C>T
XR_948347.3:n.406+6C>T