Canonical Allele Identifier: CA1458504917
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228594C= , CM000666.2:g.54228594C= GRCh38
NC_000004.11:g.55094761C= , CM000666.1:g.55094761C= GRCh37
NC_000004.10:g.54789518C= NCBI36
NG_009250.1:g.4498C= , LRG_309:g.4498C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46331C= ENSP00000423325.1:n.1018-46331C=