Canonical Allele Identifier: CA4715105

Gene: STAR

Linked Data

• dbSNP Id: rs765510994
• ExAC: 8:38001725 A / G
• gnomAD v2: 8-38001725-A-G
• gnomAD v4: 8-38144207-A-G
• MyVariant Identifiers: chr8:g.38001725A>G (hg19) ; chr8:g.38144207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144207A>G , CM000670.2:g.38144207A>G	GRCh38
NC_000008.10:g.38001725A>G , CM000670.1:g.38001725A>G	GRCh37
NC_000008.9:g.38120882A>G	NCBI36
NG_011827.1:g.11876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.*66T>C MANE Select	ENSP00000276449.3:n.*66T>C
ENST00000276449.8:c.*66T>C	ENSP00000276449.3:n.*66T>C
ENST00000520114.1:n.2893T>C
NM_000349.2:c.*66T>C	NP_000340.2:n.*66T>C
XM_006716392.1:c.830T>C	XP_006716455.1:p.Leu277Pro
NM_000349.3:c.*66T>C MANE Select	NP_000340.2:n.*66T>C