Canonical Allele Identifier: CA337955276

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303964C>T , CM000663.2:g.2303964C>T	GRCh38
NC_000001.10:g.2235403C>T , CM000663.1:g.2235403C>T	GRCh37
NC_000001.9:g.2225263C>T	NCBI36
NG_013084.1:g.80270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1336C>T MANE Select	ENSP00000367797.4:p.Leu446Phe
ENST00000378536.4:c.1336C>T	ENSP00000367797.4:p.Leu446Phe
ENST00000507179.1:n.319C>T
NM_003036.3:c.1336C>T	NP_003027.1:p.Leu446Phe
XM_005244775.2:c.1336C>T	XP_005244832.1:p.Leu446Phe
XM_005244776.3:c.466C>T	XP_005244833.1:p.Leu156Phe
XM_005244775.3:c.1336C>T	XP_005244832.1:p.Leu446Phe
XM_005244776.4:c.466C>T	XP_005244833.1:p.Leu156Phe
XM_017002128.1:c.844C>T	XP_016857617.1:p.Leu282Phe
NM_003036.4:c.1336C>T MANE Select	NP_003027.1:p.Leu446Phe