Canonical Allele Identifier: CA4715130
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1155162
ClinVar RCV Id: RCV001497374
dbSNP Id: rs753507255
ExAC: 8:38001872 G / T
gnomAD v2: 8-38001872-G-T
gnomAD v4: 8-38144354-G-T
MyVariant Identifiers: chr8:g.38001872G>T (hg19) chr8:g.38144354G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144354G>T , CM000670.2:g.38144354G>T GRCh38
NC_000008.10:g.38001872G>T , CM000670.1:g.38001872G>T GRCh37
NC_000008.9:g.38121029G>T NCBI36
NG_011827.1:g.11729C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.777C>A MANE Select ENSP00000276449.3:p.Val259=
ENST00000276449.8:c.777C>A ENSP00000276449.3:p.Val259=
ENST00000520114.1:n.2746C>A
ENST00000522050.1:c.619C>A
NM_000349.2:c.777C>A NP_000340.2:p.Val259=
XM_006716392.1:c.683C>A XP_006716455.1:p.Ser228Tyr
NM_000349.3:c.777C>A MANE Select NP_000340.2:p.Val259=
Search 100 bp 5'
Search 100 bp 3'