Canonical Allele Identifier: CA4715201
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2269329
ClinVar RCV Id: RCV002826206
dbSNP Id: rs746292898
gnomAD v2: 8-38003490-C-G
gnomAD v3: 8-38145972-C-G
gnomAD v4: 8-38145972-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145972C>G , CM000670.2:g.38145972C>G GRCh38
NC_000008.10:g.38003490C>G , CM000670.1:g.38003490C>G GRCh37
NC_000008.9:g.38122647C>G NCBI36
NG_011827.1:g.10111G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.641G>C MANE Select ENSP00000276449.3:p.Gly214Ala
ENST00000276449.8:c.641G>C ENSP00000276449.3:p.Gly214Ala
ENST00000520114.1:n.1128G>C
ENST00000522050.1:c.577G>C
NM_000349.2:c.641G>C NP_000340.2:p.Gly214Ala
XM_006716392.1:c.641G>C XP_006716455.1:p.Gly214Ala
NM_000349.3:c.641G>C MANE Select NP_000340.2:p.Gly214Ala