Canonical Allele Identifier: CA2013128067
Community Standard Title: NC_000012.12:g.4367051T=
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4367051T= , CM000674.2:g.4367051T= GRCh38
NC_000012.11:g.4476217T= , CM000674.1:g.4476217T= GRCh37
NC_000012.10:g.4346478T= NCBI36
NG_007087.1:g.17678A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648100.1:c.*1967+769T= ENSP00000497536.1:n.*1967+769T=
ENST00000674624.1:c.*1204+769T= ENSP00000501898.1:n.*1204+769T=