Canonical Allele Identifier: CA370695540

Gene: STAR

Linked Data

• dbSNP Id: rs771630033
• gnomAD v2: 8-38001808-A-G
• gnomAD v4: 8-38144290-A-G
• MyVariant Identifiers: chr8:g.38001808A>G (hg19) ; chr8:g.38144290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144290A>G , CM000670.2:g.38144290A>G	GRCh38
NC_000008.10:g.38001808A>G , CM000670.1:g.38001808A>G	GRCh37
NC_000008.9:g.38120965A>G	NCBI36
NG_011827.1:g.11793T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000276449.9:c.841T>C MANE Select	ENSP00000276449.3:p.Ser281Pro
ENST00000276449.8:c.841T>C	ENSP00000276449.3:p.Ser281Pro
ENST00000520114.1:n.2810T>C
ENST00000522050.1:c.683T>C
NM_000349.2:c.841T>C	NP_000340.2:p.Ser281Pro
XM_006716392.1:c.747T>C	XP_006716455.1:p.Pro249=
NM_000349.3:c.841T>C MANE Select	NP_000340.2:p.Ser281Pro