Canonical Allele Identifier: CA2839339475
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228352G>A , CM000666.2:g.54228352G>A GRCh38
NC_000004.11:g.55094519G>A , CM000666.1:g.55094519G>A GRCh37
NC_000004.10:g.54789276G>A NCBI36
NG_009250.1:g.4256G>A , LRG_309:g.4256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46573G>A ENSP00000423325.1:n.1018-46573G>A