Canonical Allele Identifier: CA536694

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304012C>G , CM000663.2:g.2304012C>G	GRCh38
NC_000001.10:g.2235451C>G , CM000663.1:g.2235451C>G	GRCh37
NC_000001.9:g.2225311C>G	NCBI36
NG_013084.1:g.80318C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003036.4:c.1384C>G MANE Select	NP_003027.1:p.Pro462Ala
ENST00000378536.5:c.1384C>G MANE Select	ENSP00000367797.4:p.Pro462Ala
NM_003036.3:c.1384C>G	NP_003027.1:p.Pro462Ala
ENST00000378536.4:c.1384C>G	ENSP00000367797.4:p.Pro462Ala
ENST00000507179.1:n.367C>G
XM_005244775.2:c.1384C>G	XP_005244832.1:p.Pro462Ala
XM_005244775.3:c.1384C>G	XP_005244832.1:p.Pro462Ala
XM_005244776.3:c.514C>G	XP_005244833.1:p.Pro172Ala
XM_005244776.4:c.514C>G	XP_005244833.1:p.Pro172Ala
XM_017002128.1:c.892C>G	XP_016857617.1:p.Pro298Ala