Canonical Allele Identifier: CA1059429982

Gene:

Linked Data

• gnomAD v3: 4-12578194-T-A
• gnomAD v4: 4-12578194-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578194T>A , CM000666.2:g.12578194T>A	GRCh38
NC_000004.11:g.12579818T>A , CM000666.1:g.12579818T>A	GRCh37
NC_000004.10:g.12188916T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+31148A>T
XR_001741374.1:n.254+44461A>T
XR_925406.3:n.140+31148A>T