Canonical Allele Identifier: CA581430337
Gene: STAR HGNC NCBI

Linked Data

ClinVar Variation Id: 2915615
ClinVar RCV Id: RCV003740065
dbSNP Id: rs1308902334
gnomAD v2: 8-38003790-A-C
gnomAD v3: 8-38146272-A-C
gnomAD v4: 8-38146272-A-C
MyVariant Identifiers: chr8:g.38003790A>C (hg19) chr8:g.38146272A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38146272A>C , CM000670.2:g.38146272A>C GRCh38
NC_000008.10:g.38003790A>C , CM000670.1:g.38003790A>C GRCh37
NC_000008.9:g.38122947A>C NCBI36
NG_011827.1:g.9811T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276449.9:c.465+17T>G MANE Select ENSP00000276449.3:n.465+17T>G
ENST00000276449.8:c.465+17T>G ENSP00000276449.3:n.465+17T>G
ENST00000520114.1:n.952+17T>G
ENST00000522050.1:c.401+17T>G
NM_000349.2:c.465+17T>G NP_000340.2:n.465+17T>G
XM_006716392.1:c.465+17T>G XP_006716455.1:n.465+17T>G
NM_000349.3:c.465+17T>G MANE Select NP_000340.2:n.465+17T>G
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