Canonical Allele Identifier: CA1458424493
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072375C= , CM000666.2:g.54072375C= GRCh38
NC_000004.11:g.54938542C= , CM000666.1:g.54938542C= GRCh37
NC_000004.10:g.54633299C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-202550C= ENSP00000423325.1:n.1018-202550C=