Canonical Allele Identifier: CA1500737725
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559454A= , CM000666.2:g.144559454A= GRCh38
NC_000004.11:g.145480606A= , CM000666.1:g.145480606A= GRCh37
NC_000004.10:g.145700056A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143476T= ENSP00000497507.1:n.328-143476T=
XR_939272.1:n.178+2530T=
XR_939273.1:n.178+2530T=
XR_939272.2:n.522+2530T=
XR_939273.2:n.522+2530T=