Canonical Allele Identifier: CA2346122749
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470921T= , CM000682.2:g.2470921T= GRCh38
NC_000020.10:g.2451567T= , CM000682.1:g.2451567T= GRCh37
NC_000020.9:g.2399567T= NCBI36
NG_042057.1:g.4933A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3163A= ENSP00000456213.1:n.305-3163A=