Canonical Allele Identifier: CA337957091

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304332C>T , CM000663.2:g.2304332C>T	GRCh38
NC_000001.10:g.2235771C>T , CM000663.1:g.2235771C>T	GRCh37
NC_000001.9:g.2225631C>T	NCBI36
NG_013084.1:g.80638C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003036.4:c.1514C>T MANE Select	NP_003027.1:p.Thr505Ile
ENST00000378536.5:c.1514C>T MANE Select	ENSP00000367797.4:p.Thr505Ile
NM_003036.3:c.1514C>T	NP_003027.1:p.Thr505Ile
ENST00000378536.4:c.1514C>T	ENSP00000367797.4:p.Thr505Ile
ENST00000507179.1:n.503C>T
XM_005244775.2:c.1520C>T	XP_005244832.1:p.Thr507Ile
XM_005244775.3:c.1520C>T	XP_005244832.1:p.Thr507Ile
XM_005244776.3:c.650C>T	XP_005244833.1:p.Thr217Ile
XM_005244776.4:c.650C>T	XP_005244833.1:p.Thr217Ile
XM_017002128.1:c.1028C>T	XP_016857617.1:p.Thr343Ile