Canonical Allele Identifier: CA2470007447
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707916T= , CM000686.2:g.8707916T= GRCh38
NC_000024.9:g.8575957T= , CM000686.1:g.8575957T= GRCh37
NC_000024.8:g.8635957T= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.139+8884T= ENSP00000485446.1:n.139+8884T=
ENST00000624593.1:c.-57+40800A= ENSP00000485106.1:n.-57+40800A=