Canonical Allele Identifier: CA536544

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303065T>C , CM000663.2:g.2303065T>C	GRCh38
NC_000001.10:g.2234504T>C , CM000663.1:g.2234504T>C	GRCh37
NC_000001.9:g.2224364T>C	NCBI36
NG_013084.1:g.79371T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003036.4:c.1057T>C MANE Select	NP_003027.1:p.Ser353Pro
ENST00000378536.5:c.1057T>C MANE Select	ENSP00000367797.4:p.Ser353Pro
NM_003036.3:c.1057T>C	NP_003027.1:p.Ser353Pro
ENST00000378536.4:c.1057T>C	ENSP00000367797.4:p.Ser353Pro
ENST00000478223.2:n.164T>C
ENST00000704337.1:n.225T>C
XM_005244775.2:c.1057T>C	XP_005244832.1:p.Ser353Pro
XM_005244775.3:c.1057T>C	XP_005244832.1:p.Ser353Pro
XM_005244776.3:c.187T>C	XP_005244833.1:p.Ser63Pro
XM_005244776.4:c.187T>C	XP_005244833.1:p.Ser63Pro
XM_017002128.1:c.565T>C	XP_016857617.1:p.Ser189Pro