Canonical Allele Identifier: CA874046905
Gene: SAT1-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23781816C>A , CM000685.2:g.23781816C>A GRCh38
NC_000023.10:g.23799933C>A , CM000685.1:g.23799933C>A GRCh37
NC_000023.9:g.23709854C>A NCBI36
NG_012929.1:g.3659C>A

Transcript Alleles

HGVS Amino-acid Change
XR_950535.1:n.334+752G>T
XR_001755813.1:n.334+752G>T
XR_001755814.1:n.334+752G>T
XR_001755815.1:n.334+752G>T
XR_001755816.2:n.303+752G>T
XR_001755817.1:n.325+752G>T
XR_001755818.2:n.222+1069G>T
XR_950535.2:n.334+752G>T