Canonical Allele Identifier: CA2761704375
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228356G>A , CM000666.2:g.54228356G>A GRCh38
NC_000004.11:g.55094523G>A , CM000666.1:g.55094523G>A GRCh37
NC_000004.10:g.54789280G>A NCBI36
NG_009250.1:g.4260G>A , LRG_309:g.4260G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46569G>A ENSP00000423325.1:n.1018-46569G>A