Canonical Allele Identifier: CA4715129

Gene: STAR

Linked Data

• ClinVar Variation Id: 553482
• ClinVar RCV Id: RCV000668949 ; RCV001390621
• dbSNP Id: rs551783234
• ExAC: 8:38001870 A / G
• gnomAD v2: 8-38001870-A-G
• gnomAD v3: 8-38144352-A-G
• gnomAD v4: 8-38144352-A-G
• MyVariant Identifiers: chr8:g.38001870A>G (hg19) ; chr8:g.38144352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144352A>G , CM000670.2:g.38144352A>G	GRCh38
NC_000008.10:g.38001870A>G , CM000670.1:g.38001870A>G	GRCh37
NC_000008.9:g.38121027A>G	NCBI36
NG_011827.1:g.11731T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.779T>C MANE Select	ENSP00000276449.3:p.Leu260Pro
ENST00000276449.8:c.779T>C	ENSP00000276449.3:p.Leu260Pro
ENST00000520114.1:n.2748T>C
ENST00000522050.1:c.621T>C
NM_000349.2:c.779T>C	NP_000340.2:p.Leu260Pro
XM_006716392.1:c.685T>C	XP_006716455.1:p.Cys229Arg
NM_000349.3:c.779T>C MANE Select	NP_000340.2:p.Leu260Pro