Canonical Allele Identifier: CA1500737595
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559312T= , CM000666.2:g.144559312T= GRCh38
NC_000004.11:g.145480464T= , CM000666.1:g.145480464T= GRCh37
NC_000004.10:g.145699914T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143334A= ENSP00000497507.1:n.328-143334A=
XR_939272.1:n.178+2672A=
XR_939273.1:n.178+2672A=
XR_939272.2:n.522+2672A=
XR_939273.2:n.522+2672A=