Canonical Allele Identifier: CA120037
Gene: STAR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8991
ClinVar RCV Id: RCV000009554
dbSNP Id: rs104894087

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144382C>T , CM000670.2:g.38144382C>T GRCh38
NC_000008.10:g.38001900C>T , CM000670.1:g.38001900C>T GRCh37
NC_000008.9:g.38121057C>T NCBI36
NG_011827.1:g.11701G>A

Transcript Alleles

HGVS Amino-acid change
NM_000349.2:c.749G>A VV NP_000340.2:p.Trp250Ter
XM_006716392.1:c.655G>A XP_006716455.1:p.Gly219Ser
ENST00000276449.8:c.749G>A ENSP00000276449.3:p.Trp250Ter
ENST00000520114.1:n.2718G>A
ENST00000522050.1:n.591G>A