Canonical Allele Identifier: CA2020953252
Community Standard Title: NC_000012.12:g.21130019T=
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21130019T= , CM000674.2:g.21130019T= GRCh38
NC_000012.11:g.21282953T= , CM000674.1:g.21282953T= GRCh37
NC_000012.10:g.21174220T= NCBI36
NG_011745.1:g.3826T= , LRG_1022:g.3826T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000543498.5:c.281-11495T=
ENST00000585342.5:c.371-1104T= ENSP00000467594.1:n.371-1104T=
ENST00000590779.5:c.377-1104T=
ENST00000592513.1:c.358-1104T=
ENST00000593147.5:c.406-1104T= ENSP00000467209.1:n.406-1104T=