Canonical Allele Identifier: CA2467802585
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.640879G= , CM000686.2:g.640879G= GRCh38
NC_000024.9:g.551614G= , CM000686.1:g.551614G= GRCh37
NC_000024.8:g.521614G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711141.1:c.544+1G= ENSP00000518639.1:n.544+1G=
ENST00000711142.1:c.544+1G= ENSP00000518640.1:n.544+1G=
ENST00000711143.1:c.544+1G= ENSP00000518641.1:n.544+1G=
ENST00000711145.1:c.544+1G= ENSP00000518642.1:n.544+1G=