Canonical Allele Identifier: CA16895258

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303033A>G , CM000663.2:g.2303033A>G	GRCh38
NC_000001.10:g.2234472A>G , CM000663.1:g.2234472A>G	GRCh37
NC_000001.9:g.2224332A>G	NCBI36
NG_013084.1:g.79339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.193A>G
ENST00000378536.5:c.1025A>G MANE Select	ENSP00000367797.4:p.Gln342Arg
ENST00000378536.4:c.1025A>G	ENSP00000367797.4:p.Gln342Arg
ENST00000478223.2:n.132A>G
ENST00000508416.1:n.247A>G
NM_003036.3:c.1025A>G	NP_003027.1:p.Gln342Arg
XM_005244775.2:c.1025A>G	XP_005244832.1:p.Gln342Arg
XM_005244776.3:c.155A>G	XP_005244833.1:p.Gln52Arg
XM_005244775.3:c.1025A>G	XP_005244832.1:p.Gln342Arg
XM_005244776.4:c.155A>G	XP_005244833.1:p.Gln52Arg
XM_017002128.1:c.533A>G	XP_016857617.1:p.Gln178Arg
NM_003036.4:c.1025A>G MANE Select	NP_003027.1:p.Gln342Arg