Canonical Allele Identifier: CA2063472082
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111766623A= , CM000674.2:g.111766623A= GRCh38
NC_000012.11:g.112204427A= , CM000674.1:g.112204427A= GRCh37
NC_000012.10:g.110688810A= NCBI36
NG_012250.1:g.5082A=
NG_012250.2:g.4737A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546840.3:c.104+10878A=
ENST00000546840.2:c.99+10878A= ENSP00000450353.3:n.99+10878A=