Canonical Allele Identifier: CA4715133

Gene: STAR

Linked Data

• ClinVar Variation Id: 1089539
• ClinVar RCV Id: RCV001408403 ; RCV002499874
• dbSNP Id: rs146000965
• ExAC: 8:38001890 C / T
• gnomAD v2: 8-38001890-C-T
• gnomAD v3: 8-38144372-C-T
• gnomAD v4: 8-38144372-C-T
• MyVariant Identifiers: chr8:g.38001890C>T (hg19) ; chr8:g.38144372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144372C>T , CM000670.2:g.38144372C>T	GRCh38
NC_000008.10:g.38001890C>T , CM000670.1:g.38001890C>T	GRCh37
NC_000008.9:g.38121047C>T	NCBI36
NG_011827.1:g.11711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.759G>A MANE Select	ENSP00000276449.3:p.Lys253=
ENST00000276449.8:c.759G>A	ENSP00000276449.3:p.Lys253=
ENST00000520114.1:n.2728G>A
ENST00000522050.1:c.601G>A
NM_000349.2:c.759G>A	NP_000340.2:p.Lys253=
XM_006716392.1:c.665G>A	XP_006716455.1:p.Arg222Lys
NM_000349.3:c.759G>A MANE Select	NP_000340.2:p.Lys253=