Canonical Allele Identifier: CA4715221

Gene: STAR

Linked Data

• ClinVar Variation Id: 448533
• ClinVar RCV Id: RCV000517184 ; RCV000668944
• dbSNP Id: rs747169620
• ExAC: 8:38003626 C / T
• gnomAD v2: 8-38003626-C-T
• gnomAD v4: 8-38146108-C-T
• COSMIC: COSM1099547
• MyVariant Identifiers: chr8:g.38003626C>T (hg19) ; chr8:g.38146108C>T (hg38)
• PubMed: PMID:8948562 ; PMID:23920000 ; PMID:26523528

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38146108C>T , CM000670.2:g.38146108C>T	GRCh38
NC_000008.10:g.38003626C>T , CM000670.1:g.38003626C>T	GRCh37
NC_000008.9:g.38122783C>T	NCBI36
NG_011827.1:g.9975G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.505G>A MANE Select	ENSP00000276449.3:p.Glu169Lys
ENST00000276449.8:c.505G>A	ENSP00000276449.3:p.Glu169Lys
ENST00000520114.1:n.992G>A
ENST00000522050.1:c.441G>A
NM_000349.2:c.505G>A	NP_000340.2:p.Glu169Lys
XM_006716392.1:c.505G>A	XP_006716455.1:p.Glu169Lys
NM_000349.3:c.505G>A MANE Select	NP_000340.2:p.Glu169Lys