Canonical Allele Identifier: CA415774345

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234726C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303287C>T , CM000663.2:g.2303287C>T	GRCh38
NC_000001.10:g.2234726C>T , CM000663.1:g.2234726C>T	GRCh37
NC_000001.9:g.2224586C>T	NCBI36
NG_013084.1:g.79593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.266C>T
ENST00000378536.5:c.1098C>T MANE Select	ENSP00000367797.4:p.Ser366=
ENST00000378536.4:c.1098C>T	ENSP00000367797.4:p.Ser366=
ENST00000478223.2:n.205C>T
NM_003036.3:c.1098C>T	NP_003027.1:p.Ser366=
XM_005244775.2:c.1098C>T	XP_005244832.1:p.Ser366=
XM_005244776.3:c.228C>T	XP_005244833.1:p.Ser76=
XM_005244775.3:c.1098C>T	XP_005244832.1:p.Ser366=
XM_005244776.4:c.228C>T	XP_005244833.1:p.Ser76=
XM_017002128.1:c.606C>T	XP_016857617.1:p.Ser202=
NM_003036.4:c.1098C>T MANE Select	NP_003027.1:p.Ser366=