Canonical Allele Identifier: CA370695628
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1424512
ClinVar RCV Id: RCV001921717
dbSNP Id: rs2130611086
gnomAD v4: 8-38144304-T-A
MyVariant Identifiers: chr8:g.38001822T>A (hg19) chr8:g.38144304T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144304T>A , CM000670.2:g.38144304T>A GRCh38
NC_000008.10:g.38001822T>A , CM000670.1:g.38001822T>A GRCh37
NC_000008.9:g.38120979T>A NCBI36
NG_011827.1:g.11779A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000276449.9:c.827A>T MANE Select ENSP00000276449.3:p.Glu276Val
ENST00000276449.8:c.827A>T ENSP00000276449.3:p.Glu276Val
ENST00000520114.1:n.2796A>T
ENST00000522050.1:c.669A>T
NM_000349.2:c.827A>T NP_000340.2:p.Glu276Val
XM_006716392.1:c.733A>T XP_006716455.1:p.Ser245Cys
NM_000349.3:c.827A>T MANE Select NP_000340.2:p.Glu276Val
Search 100 bp 5'
Search 100 bp 3'