Canonical Allele Identifier: CA4715329

Gene: STAR

Linked Data

• ClinVar Variation Id: 362848
• ClinVar RCV Id: RCV000335570 ; RCV001438234 ; RCV003902416
• dbSNP Id: rs777624416
• ExAC: 8:38006150 A / G
• gnomAD v2: 8-38006150-A-G
• gnomAD v3: 8-38148632-A-G
• gnomAD v4: 8-38148632-A-G
• MyVariant Identifiers: chr8:g.38006150A>G (hg19) ; chr8:g.38148632A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38148632A>G , CM000670.2:g.38148632A>G	GRCh38
NC_000008.10:g.38006150A>G , CM000670.1:g.38006150A>G	GRCh37
NC_000008.9:g.38125307A>G	NCBI36
NG_011827.1:g.7451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.178+9T>C MANE Select	ENSP00000276449.3:n.178+9T>C
ENST00000276449.8:c.178+9T>C	ENSP00000276449.3:n.178+9T>C
ENST00000520114.1:n.361T>C
ENST00000521236.1:c.-101+9T>C	ENSP00000430030.1:n.-101+9T>C
ENST00000522050.1:c.114+9T>C
NM_000349.2:c.178+9T>C	NP_000340.2:n.178+9T>C
XM_006716392.1:c.178+9T>C	XP_006716455.1:n.178+9T>C
NM_000349.3:c.178+9T>C MANE Select	NP_000340.2:n.178+9T>C