Canonical Allele Identifier: CA1112877161
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1585624233
gnomAD v3: 8-38145153-G-A
gnomAD v4: 8-38145153-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145153G>A , CM000670.2:g.38145153G>A GRCh38
NC_000008.10:g.38002671G>A , CM000670.1:g.38002671G>A GRCh37
NC_000008.9:g.38121828G>A NCBI36
NG_011827.1:g.10930C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.744+69C>T MANE Select ENSP00000276449.3:n.744+69C>T
ENST00000276449.8:c.744+69C>T ENSP00000276449.3:n.744+69C>T
ENST00000520114.1:n.1947C>T
ENST00000522050.1:c.587-767C>T
NM_000349.2:c.744+69C>T NP_000340.2:n.744+69C>T
XM_006716392.1:c.651-767C>T XP_006716455.1:n.651-767C>T
NM_000349.3:c.744+69C>T MANE Select NP_000340.2:n.744+69C>T