Canonical Allele Identifier: CA2467782735
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.624523C= , CM000686.2:g.624523C= GRCh38
NC_000024.9:g.535258C= , CM000686.1:g.535258C= GRCh37
NC_000024.8:g.505258C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711143.1:c.-512C= ENSP00000518641.1:n.-512C=
ENST00000711145.1:c.-512C= ENSP00000518642.1:n.-512C=