Canonical Allele Identifier: CA324649

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303929C>T , CM000663.2:g.2303929C>T	GRCh38
NC_000001.10:g.2235368C>T , CM000663.1:g.2235368C>T	GRCh37
NC_000001.9:g.2225228C>T	NCBI36
NG_013084.1:g.80235C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003036.4:c.1301C>T MANE Select	NP_003027.1:p.Pro434Leu
ENST00000378536.5:c.1301C>T MANE Select	ENSP00000367797.4:p.Pro434Leu
NM_003036.3:c.1301C>T	NP_003027.1:p.Pro434Leu
ENST00000378536.4:c.1301C>T	ENSP00000367797.4:p.Pro434Leu
ENST00000507179.1:n.284C>T
XM_005244775.2:c.1301C>T	XP_005244832.1:p.Pro434Leu
XM_005244775.3:c.1301C>T	XP_005244832.1:p.Pro434Leu
XM_005244776.3:c.431C>T	XP_005244833.1:p.Pro144Leu
XM_005244776.4:c.431C>T	XP_005244833.1:p.Pro144Leu
XM_017002128.1:c.809C>T	XP_016857617.1:p.Pro270Leu