Canonical Allele Identifier: CA1500738087
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559804A= , CM000666.2:g.144559804A= GRCh38
NC_000004.11:g.145480956A= , CM000666.1:g.145480956A= GRCh37
NC_000004.10:g.145700406A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143826T= ENSP00000497507.1:n.328-143826T=
XR_939272.1:n.178+2180T=
XR_939273.1:n.178+2180T=
XR_939272.2:n.522+2180T=
XR_939273.2:n.522+2180T=