Canonical Allele Identifier: CA2793649284
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164806G>A , CM000673.2:g.112164806G>A GRCh38
NC_000011.9:g.112035529G>A , CM000673.1:g.112035529G>A GRCh37
NC_000011.8:g.111540739G>A NCBI36
NG_028143.1:g.4312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5613G>A
ENST00000531744.5:c.315-5613G>A ENSP00000456957.1:n.315-5613G>A
ENST00000532699.1:c.315-5613G>A ENSP00000456434.1:n.315-5613G>A