Canonical Allele Identifier: CA16608855
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38352332G>A , CM000685.2:g.38352332G>A GRCh38
NC_000023.10:g.38211585G>A , CM000685.1:g.38211585G>A GRCh37
NC_000023.9:g.38096529G>A NCBI36
NG_008471.1:g.4850G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465127.1:c.172-313789G>A ENSP00000417050.1:n.172-313789G>A