Canonical Allele Identifier: CA1021127349

Gene:

Linked Data

• dbSNP Id: rs1981481281
• gnomAD v3: 21-22259380-T-A
• gnomAD v4: 21-22259380-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259380T>A , CM000683.2:g.22259380T>A	GRCh38
NC_000021.8:g.23631700T>A , CM000683.1:g.23631700T>A	GRCh37
NC_000021.7:g.22553571T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46567T>A