Canonical Allele Identifier: CA415774626

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234834A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303395A>C , CM000663.2:g.2303395A>C	GRCh38
NC_000001.10:g.2234834A>C , CM000663.1:g.2234834A>C	GRCh37
NC_000001.9:g.2224694A>C	NCBI36
NG_013084.1:g.79701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.374A>C
ENST00000378536.5:c.1206A>C MANE Select	ENSP00000367797.4:p.Arg402=
ENST00000378536.4:c.1206A>C	ENSP00000367797.4:p.Arg402=
NM_003036.3:c.1206A>C	NP_003027.1:p.Arg402=
XM_005244775.2:c.1206A>C	XP_005244832.1:p.Arg402=
XM_005244776.3:c.336A>C	XP_005244833.1:p.Arg112=
XM_005244775.3:c.1206A>C	XP_005244832.1:p.Arg402=
XM_005244776.4:c.336A>C	XP_005244833.1:p.Arg112=
XM_017002128.1:c.714A>C	XP_016857617.1:p.Arg238=
NM_003036.4:c.1206A>C MANE Select	NP_003027.1:p.Arg402=