Canonical Allele Identifier: CA1500737646
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559380G= , CM000666.2:g.144559380G= GRCh38
NC_000004.11:g.145480532G= , CM000666.1:g.145480532G= GRCh37
NC_000004.10:g.145699982G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143402C= ENSP00000497507.1:n.328-143402C=
XR_939272.1:n.178+2604C=
XR_939273.1:n.178+2604C=
XR_939272.2:n.522+2604C=
XR_939273.2:n.522+2604C=