Canonical Allele Identifier: CA551530052
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.53933078T>G , CM000666.2:g.53933078T>G GRCh38
NC_000004.11:g.54799245T>G , CM000666.1:g.54799245T>G GRCh37
NC_000004.10:g.54494002T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-341847T>G ENSP00000423325.1:n.1018-341847T>G