Canonical Allele Identifier: CA337954543

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234797A>G (hg19) ; chr1:g.2303358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303358A>G , CM000663.2:g.2303358A>G	GRCh38
NC_000001.10:g.2234797A>G , CM000663.1:g.2234797A>G	GRCh37
NC_000001.9:g.2224657A>G	NCBI36
NG_013084.1:g.79664A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.337A>G
ENST00000378536.5:c.1169A>G MANE Select	ENSP00000367797.4:p.Glu390Gly
ENST00000378536.4:c.1169A>G	ENSP00000367797.4:p.Glu390Gly
ENST00000478223.2:n.276A>G
NM_003036.3:c.1169A>G	NP_003027.1:p.Glu390Gly
XM_005244775.2:c.1169A>G	XP_005244832.1:p.Glu390Gly
XM_005244776.3:c.299A>G	XP_005244833.1:p.Glu100Gly
XM_005244775.3:c.1169A>G	XP_005244832.1:p.Glu390Gly
XM_005244776.4:c.299A>G	XP_005244833.1:p.Glu100Gly
XM_017002128.1:c.677A>G	XP_016857617.1:p.Glu226Gly
NM_003036.4:c.1169A>G MANE Select	NP_003027.1:p.Glu390Gly