Canonical Allele Identifier: CA800729735
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99401288T>A , CM000666.2:g.99401288T>A GRCh38
NC_000004.11:g.100322445T>A , CM000666.1:g.100322445T>A GRCh37
NC_000004.10:g.100541468T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427569.2:n.510+1545A>T
XR_939020.1:n.510+1545A>T
XR_939021.1:n.374+2803A>T
XR_001741777.1:n.756+1545A>T
XR_427569.3:n.1284+1545A>T
XR_939020.2:n.1284+1545A>T