Canonical Allele Identifier: CA460496848

Gene: STAR

Linked Data

• ClinVar Variation Id: 2791437
• ClinVar RCV Id: RCV003672481
• MyVariant Identifiers: chr8:g.38003516G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38145998G>A , CM000670.2:g.38145998G>A	GRCh38
NC_000008.10:g.38003516G>A , CM000670.1:g.38003516G>A	GRCh37
NC_000008.9:g.38122673G>A	NCBI36
NG_011827.1:g.10085C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000276449.9:c.615C>T MANE Select	ENSP00000276449.3:p.Asp205=
ENST00000276449.8:c.615C>T	ENSP00000276449.3:p.Asp205=
ENST00000520114.1:n.1102C>T
ENST00000522050.1:c.551C>T
NM_000349.2:c.615C>T	NP_000340.2:p.Asp205=
XM_006716392.1:c.615C>T	XP_006716455.1:p.Asp205=
NM_000349.3:c.615C>T MANE Select	NP_000340.2:p.Asp205=