Canonical Allele Identifier: CA415774410

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234753C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303314C>G , CM000663.2:g.2303314C>G	GRCh38
NC_000001.10:g.2234753C>G , CM000663.1:g.2234753C>G	GRCh37
NC_000001.9:g.2224613C>G	NCBI36
NG_013084.1:g.79620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.293C>G
ENST00000378536.5:c.1125C>G MANE Select	ENSP00000367797.4:p.Arg375=
ENST00000378536.4:c.1125C>G	ENSP00000367797.4:p.Arg375=
ENST00000478223.2:n.232C>G
NM_003036.3:c.1125C>G	NP_003027.1:p.Arg375=
XM_005244775.2:c.1125C>G	XP_005244832.1:p.Arg375=
XM_005244776.3:c.255C>G	XP_005244833.1:p.Arg85=
XM_005244775.3:c.1125C>G	XP_005244832.1:p.Arg375=
XM_005244776.4:c.255C>G	XP_005244833.1:p.Arg85=
XM_017002128.1:c.633C>G	XP_016857617.1:p.Arg211=
NM_003036.4:c.1125C>G MANE Select	NP_003027.1:p.Arg375=