Canonical Allele Identifier: CA370696319

Gene: STAR

Linked Data

• gnomAD v4: 8-38144386-C-T
• MyVariant Identifiers: chr8:g.38001904C>T (hg19) ; chr8:g.38144386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144386C>T , CM000670.2:g.38144386C>T	GRCh38
NC_000008.10:g.38001904C>T , CM000670.1:g.38001904C>T	GRCh37
NC_000008.9:g.38121061C>T	NCBI36
NG_011827.1:g.11697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.745G>A MANE Select	ENSP00000276449.3:p.Gly249Arg
ENST00000276449.8:c.745G>A	ENSP00000276449.3:p.Gly249Arg
ENST00000520114.1:n.2714G>A
ENST00000522050.1:c.587G>A
NM_000349.2:c.745G>A	NP_000340.2:p.Gly249Arg
XM_006716392.1:c.651G>A	XP_006716455.1:p.Arg217=
NM_000349.3:c.745G>A MANE Select	NP_000340.2:p.Gly249Arg