Canonical Allele Identifier: CA1081187031

Gene:

Linked Data

• gnomAD v3: 5-126002914-C-A
• gnomAD v4: 5-126002914-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002914C>A , CM000667.2:g.126002914C>A	GRCh38
NC_000005.9:g.125338607C>A , CM000667.1:g.125338607C>A	GRCh37
NC_000005.8:g.125366506C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948737.1:n.565+3426G>T
XR_948738.1:n.497+5626G>T