Canonical Allele Identifier: CA2580581565
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54226459T>A , CM000666.2:g.54226459T>A GRCh38
NC_000004.11:g.55092626T>A , CM000666.1:g.55092626T>A GRCh37
NC_000004.10:g.54787383T>A NCBI36
NG_009250.1:g.2363T>A , LRG_309:g.2363T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-48466T>A ENSP00000423325.1:n.1018-48466T>A