Canonical Allele Identifier: CA460374954
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2054975
ClinVar RCV Id: RCV002909923
MyVariant Identifiers: chr8:g.38001860G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144342G>T , CM000670.2:g.38144342G>T GRCh38
NC_000008.10:g.38001860G>T , CM000670.1:g.38001860G>T GRCh37
NC_000008.9:g.38121017G>T NCBI36
NG_011827.1:g.11741C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.789C>A MANE Select ENSP00000276449.3:p.Thr263=
ENST00000276449.8:c.789C>A ENSP00000276449.3:p.Thr263=
ENST00000520114.1:n.2758C>A
ENST00000522050.1:c.631C>A
NM_000349.2:c.789C>A NP_000340.2:p.Thr263=
XM_006716392.1:c.695C>A XP_006716455.1:p.Pro232His
NM_000349.3:c.789C>A MANE Select NP_000340.2:p.Thr263=