Canonical Allele Identifier: CA536533

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303042C>T , CM000663.2:g.2303042C>T	GRCh38
NC_000001.10:g.2234481C>T , CM000663.1:g.2234481C>T	GRCh37
NC_000001.9:g.2224341C>T	NCBI36
NG_013084.1:g.79348C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003036.4:c.1034C>T MANE Select	NP_003027.1:p.Ala345Val
ENST00000378536.5:c.1034C>T MANE Select	ENSP00000367797.4:p.Ala345Val
NM_003036.3:c.1034C>T	NP_003027.1:p.Ala345Val
ENST00000378536.4:c.1034C>T	ENSP00000367797.4:p.Ala345Val
ENST00000478223.2:n.141C>T
ENST00000704337.1:n.202C>T
XM_005244775.2:c.1034C>T	XP_005244832.1:p.Ala345Val
XM_005244775.3:c.1034C>T	XP_005244832.1:p.Ala345Val
XM_005244776.3:c.164C>T	XP_005244833.1:p.Ala55Val
XM_005244776.4:c.164C>T	XP_005244833.1:p.Ala55Val
XM_017002128.1:c.542C>T	XP_016857617.1:p.Ala181Val