Canonical Allele Identifier: CA460374907
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 1666967
ClinVar RCV Id: RCV002184480
dbSNP Id: rs1802521287
gnomAD v4: 8-38144276-A-G
MyVariant Identifiers: chr8:g.38001794A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38144276A>G , CM000670.2:g.38144276A>G GRCh38
NC_000008.10:g.38001794A>G , CM000670.1:g.38001794A>G GRCh37
NC_000008.9:g.38120951A>G NCBI36
NG_011827.1:g.11807T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.855T>C MANE Select ENSP00000276449.3:p.Cys285=
ENST00000276449.8:c.855T>C ENSP00000276449.3:p.Cys285=
ENST00000520114.1:n.2824T>C
ENST00000522050.1:c.697T>C
NM_000349.2:c.855T>C NP_000340.2:p.Cys285=
XM_006716392.1:c.761T>C XP_006716455.1:p.Val254Ala
NM_000349.3:c.855T>C MANE Select NP_000340.2:p.Cys285=
Search 100 bp 5'
Search 100 bp 3'