Canonical Allele Identifier: CA4715199

Gene: STAR

Linked Data

• ClinVar Variation Id: 1146061
• ClinVar RCV Id: RCV001485178
• dbSNP Id: rs566068182
• ExAC: 8:38003474 G / A
• gnomAD v2: 8-38003474-G-A
• gnomAD v3: 8-38145956-G-A
• gnomAD v4: 8-38145956-G-A
• MyVariant Identifiers: chr8:g.38003474G>A (hg19) ; chr8:g.38145956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145956G>A , CM000670.2:g.38145956G>A	GRCh38
NC_000008.10:g.38003474G>A , CM000670.1:g.38003474G>A	GRCh37
NC_000008.9:g.38122631G>A	NCBI36
NG_011827.1:g.10127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.650+7C>T MANE Select	ENSP00000276449.3:n.650+7C>T
ENST00000276449.8:c.650+7C>T	ENSP00000276449.3:n.650+7C>T
ENST00000520114.1:n.1144C>T
ENST00000522050.1:c.586+7C>T
NM_000349.2:c.650+7C>T	NP_000340.2:n.650+7C>T
XM_006716392.1:c.650+7C>T	XP_006716455.1:n.650+7C>T
NM_000349.3:c.650+7C>T MANE Select	NP_000340.2:n.650+7C>T