Canonical Allele Identifier: CA337954548

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234798G>T (hg19) ; chr1:g.2303359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303359G>T , CM000663.2:g.2303359G>T	GRCh38
NC_000001.10:g.2234798G>T , CM000663.1:g.2234798G>T	GRCh37
NC_000001.9:g.2224658G>T	NCBI36
NG_013084.1:g.79665G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.338G>T
ENST00000378536.5:c.1170G>T MANE Select	ENSP00000367797.4:p.Glu390Asp
ENST00000378536.4:c.1170G>T	ENSP00000367797.4:p.Glu390Asp
ENST00000478223.2:n.277G>T
NM_003036.3:c.1170G>T	NP_003027.1:p.Glu390Asp
XM_005244775.2:c.1170G>T	XP_005244832.1:p.Glu390Asp
XM_005244776.3:c.300G>T	XP_005244833.1:p.Glu100Asp
XM_005244775.3:c.1170G>T	XP_005244832.1:p.Glu390Asp
XM_005244776.4:c.300G>T	XP_005244833.1:p.Glu100Asp
XM_017002128.1:c.678G>T	XP_016857617.1:p.Glu226Asp
NM_003036.4:c.1170G>T MANE Select	NP_003027.1:p.Glu390Asp