Canonical Allele Identifier: CA11646509
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228462G>T , CM000666.2:g.54228462G>T GRCh38
NC_000004.11:g.55094629G>T , CM000666.1:g.55094629G>T GRCh37
NC_000004.10:g.54789386G>T NCBI36
NG_009250.1:g.4366G>T , LRG_309:g.4366G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46463G>T ENSP00000423325.1:n.1018-46463G>T