Canonical Allele Identifier: CA370696816
Gene: STAR HGNC NCBI

Linked Data

dbSNP Id: rs1802547129
gnomAD v3: 8-38145248-T-C
gnomAD v4: 8-38145248-T-C
MyVariant Identifiers: chr8:g.38002766T>C (hg19) chr8:g.38145248T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38145248T>C , CM000670.2:g.38145248T>C GRCh38
NC_000008.10:g.38002766T>C , CM000670.1:g.38002766T>C GRCh37
NC_000008.9:g.38121923T>C NCBI36
NG_011827.1:g.10835A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.718A>G MANE Select ENSP00000276449.3:p.Thr240Ala
ENST00000276449.8:c.718A>G ENSP00000276449.3:p.Thr240Ala
ENST00000520114.1:n.1852A>G
ENST00000522050.1:c.586+715A>G
NM_000349.2:c.718A>G NP_000340.2:p.Thr240Ala
XM_006716392.1:c.650+715A>G XP_006716455.1:n.650+715A>G
NM_000349.3:c.718A>G MANE Select NP_000340.2:p.Thr240Ala
Search 100 bp 5'
Search 100 bp 3'