Canonical Allele Identifier: CA2346122744
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470908T= , CM000682.2:g.2470908T= GRCh38
NC_000020.10:g.2451554T= , CM000682.1:g.2451554T= GRCh37
NC_000020.9:g.2399554T= NCBI36
NG_042057.1:g.4946A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3150A= ENSP00000456213.1:n.305-3150A=