Canonical Allele Identifier: CA2020952822
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21129476A= , CM000674.2:g.21129476A= GRCh38
NC_000012.11:g.21282410A= , CM000674.1:g.21282410A= GRCh37
NC_000012.10:g.21173677A= NCBI36
NG_011745.1:g.3283A= , LRG_1022:g.3283A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000543498.5:c.281-12038A=
ENST00000585342.5:c.371-1647A= ENSP00000467594.1:n.371-1647A=
ENST00000590779.5:c.377-1647A=
ENST00000592513.1:c.358-1647A=
ENST00000593147.5:c.406-1647A= ENSP00000467209.1:n.406-1647A=