Canonical Allele Identifier: CA2839631089
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228351G>A , CM000666.2:g.54228351G>A GRCh38
NC_000004.11:g.55094518G>A , CM000666.1:g.55094518G>A GRCh37
NC_000004.10:g.54789275G>A NCBI36
NG_009250.1:g.4255G>A , LRG_309:g.4255G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46574G>A ENSP00000423325.1:n.1018-46574G>A