Canonical Allele Identifier: CA4715222

Gene: STAR

Linked Data

• ClinVar Variation Id: 362844
• ClinVar RCV Id: RCV000290676 ; RCV000901945 ; RCV003922631
• dbSNP Id: rs147138315
• ExAC: 8:38003627 G / A
• gnomAD v2: 8-38003627-G-A
• gnomAD v3: 8-38146109-G-A
• gnomAD v4: 8-38146109-G-A
• MyVariant Identifiers: chr8:g.38003627G>A (hg19) ; chr8:g.38146109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38146109G>A , CM000670.2:g.38146109G>A	GRCh38
NC_000008.10:g.38003627G>A , CM000670.1:g.38003627G>A	GRCh37
NC_000008.9:g.38122784G>A	NCBI36
NG_011827.1:g.9974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.504C>T MANE Select	ENSP00000276449.3:p.His168=
ENST00000276449.8:c.504C>T	ENSP00000276449.3:p.His168=
ENST00000520114.1:n.991C>T
ENST00000522050.1:c.440C>T
NM_000349.2:c.504C>T	NP_000340.2:p.His168=
XM_006716392.1:c.504C>T	XP_006716455.1:p.His168=
NM_000349.3:c.504C>T MANE Select	NP_000340.2:p.His168=