Canonical Allele Identifier: CA337954571

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234803A>T (hg19) ; chr1:g.2303364A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303364A>T , CM000663.2:g.2303364A>T	GRCh38
NC_000001.10:g.2234803A>T , CM000663.1:g.2234803A>T	GRCh37
NC_000001.9:g.2224663A>T	NCBI36
NG_013084.1:g.79670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.343A>T
ENST00000378536.5:c.1175A>T MANE Select	ENSP00000367797.4:p.Glu392Val
ENST00000378536.4:c.1175A>T	ENSP00000367797.4:p.Glu392Val
ENST00000478223.2:n.282A>T
NM_003036.3:c.1175A>T	NP_003027.1:p.Glu392Val
XM_005244775.2:c.1175A>T	XP_005244832.1:p.Glu392Val
XM_005244776.3:c.305A>T	XP_005244833.1:p.Glu102Val
XM_005244775.3:c.1175A>T	XP_005244832.1:p.Glu392Val
XM_005244776.4:c.305A>T	XP_005244833.1:p.Glu102Val
XM_017002128.1:c.683A>T	XP_016857617.1:p.Glu228Val
NM_003036.4:c.1175A>T MANE Select	NP_003027.1:p.Glu392Val