Canonical Allele Identifier: CA16042372

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304298T>A , CM000663.2:g.2304298T>A	GRCh38
NC_000001.10:g.2235737T>A , CM000663.1:g.2235737T>A	GRCh37
NC_000001.9:g.2225597T>A	NCBI36
NG_013084.1:g.80604T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003036.4:c.1480T>A MANE Select	NP_003027.1:p.Ser494Thr
ENST00000378536.5:c.1480T>A MANE Select	ENSP00000367797.4:p.Ser494Thr
NM_003036.3:c.1480T>A	NP_003027.1:p.Ser494Thr
ENST00000378536.4:c.1480T>A	ENSP00000367797.4:p.Ser494Thr
ENST00000507179.1:n.469T>A
XM_005244775.2:c.1486T>A	XP_005244832.1:p.Ser496Thr
XM_005244775.3:c.1486T>A	XP_005244832.1:p.Ser496Thr
XM_005244776.3:c.616T>A	XP_005244833.1:p.Ser206Thr
XM_005244776.4:c.616T>A	XP_005244833.1:p.Ser206Thr
XM_017002128.1:c.994T>A	XP_016857617.1:p.Ser332Thr