Canonical Allele Identifier: CA2682049032

Gene:

Linked Data

• gnomAD v4: 7-24291914-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24291914T>A , CM000669.2:g.24291914T>A	GRCh38
NC_000007.13:g.24331533T>A , CM000669.1:g.24331533T>A	GRCh37
NC_000007.12:g.24298058T>A	NCBI36
NG_016148.1:g.12727T>A

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.41+27443A>T	XP_016868399.1:n.41+27443A>T
XM_017012911.1:c.41+27443A>T	XP_016868400.1:n.41+27443A>T
XR_001745121.1:n.473+27443A>T
XR_001745122.1:n.345-94885A>T
XR_001745123.1:n.473+27443A>T
XR_001745124.1:n.473+27443A>T
XR_001745125.1:n.473+27443A>T
XR_001745126.1:n.473+27443A>T
XR_001745127.1:n.345-36215A>T
XR_001745129.1:n.473+27443A>T
XR_001745130.1:n.473+27443A>T
XR_001745131.1:n.473+27443A>T
XR_001745132.1:n.473+27443A>T