Canonical Allele Identifier: CA1063282193

Gene:

Linked Data

• dbSNP Id: rs1756229689
• gnomAD v3: 4-62558254-A-G
• gnomAD v4: 4-62558254-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62558254A>G , CM000666.2:g.62558254A>G	GRCh38
NC_000004.11:g.63423972A>G , CM000666.1:g.63423972A>G	GRCh37
NC_000004.10:g.63106567A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5590A>G