Canonical Allele Identifier: CA1500737762
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559485C= , CM000666.2:g.144559485C= GRCh38
NC_000004.11:g.145480637C= , CM000666.1:g.145480637C= GRCh37
NC_000004.10:g.145700087C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143507G= ENSP00000497507.1:n.328-143507G=
XR_939272.1:n.178+2499G=
XR_939273.1:n.178+2499G=
XR_939272.2:n.522+2499G=
XR_939273.2:n.522+2499G=