Canonical Allele Identifier: CA1500737757
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559482T= , CM000666.2:g.144559482T= GRCh38
NC_000004.11:g.145480634T= , CM000666.1:g.145480634T= GRCh37
NC_000004.10:g.145700084T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143504A= ENSP00000497507.1:n.328-143504A=
XR_939272.1:n.178+2502A=
XR_939273.1:n.178+2502A=
XR_939272.2:n.522+2502A=
XR_939273.2:n.522+2502A=