Canonical Allele Identifier: CA370695595

Gene: STAR

Linked Data

• MyVariant Identifiers: chr8:g.38001816T>A (hg19) ; chr8:g.38144298T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38144298T>A , CM000670.2:g.38144298T>A	GRCh38
NC_000008.10:g.38001816T>A , CM000670.1:g.38001816T>A	GRCh37
NC_000008.9:g.38120973T>A	NCBI36
NG_011827.1:g.11785A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276449.9:c.833A>T MANE Select	ENSP00000276449.3:p.His278Leu
ENST00000276449.8:c.833A>T	ENSP00000276449.3:p.His278Leu
ENST00000520114.1:n.2802A>T
ENST00000522050.1:c.675A>T
NM_000349.2:c.833A>T	NP_000340.2:p.His278Leu
XM_006716392.1:c.739A>T	XP_006716455.1:p.Thr247Ser
NM_000349.3:c.833A>T MANE Select	NP_000340.2:p.His278Leu