Canonical Allele Identifier: CA460374949
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1139385
ClinVar RCV Id: RCV001476093
dbSNP Id: rs2130611158
gnomAD v4: 8-38144336-C-T
MyVariant Identifiers: chr8:g.38001854C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144336C>T , CM000670.2:g.38144336C>T GRCh38
NC_000008.10:g.38001854C>T , CM000670.1:g.38001854C>T GRCh37
NC_000008.9:g.38121011C>T NCBI36
NG_011827.1:g.11747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.795G>A MANE Select ENSP00000276449.3:p.Val265=
ENST00000276449.8:c.795G>A ENSP00000276449.3:p.Val265=
ENST00000520114.1:n.2764G>A
ENST00000522050.1:c.637G>A
NM_000349.2:c.795G>A NP_000340.2:p.Val265=
XM_006716392.1:c.701G>A XP_006716455.1:p.Trp234Ter
NM_000349.3:c.795G>A MANE Select NP_000340.2:p.Val265=
Search 100 bp 5'
Search 100 bp 3'