Canonical Allele Identifier: CA129942
Gene: STAR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35553
ClinVar RCV Id: RCV000029206
dbSNP Id: rs387907235

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146036G>A , CM000670.2:g.38146036G>A GRCh38
NC_000008.10:g.38003554G>A , CM000670.1:g.38003554G>A GRCh37
NC_000008.9:g.38122711G>A NCBI36
NG_011827.1:g.10047C>T

Transcript Alleles

HGVS Amino-acid change
NM_000349.2:c.577C>T VV NP_000340.2:p.Arg193Ter
XM_006716392.1:c.577C>T XP_006716455.1:p.Arg193Ter
ENST00000276449.8:c.577C>T ENSP00000276449.3:p.Arg193Ter
ENST00000520114.1:n.1064C>T
ENST00000522050.1:n.513C>T