Canonical Allele Identifier: CA337954619

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234820C>A (hg19) ; chr1:g.2303381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303381C>A , CM000663.2:g.2303381C>A	GRCh38
NC_000001.10:g.2234820C>A , CM000663.1:g.2234820C>A	GRCh37
NC_000001.9:g.2224680C>A	NCBI36
NG_013084.1:g.79687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.360C>A
ENST00000378536.5:c.1192C>A MANE Select	ENSP00000367797.4:p.Pro398Thr
ENST00000378536.4:c.1192C>A	ENSP00000367797.4:p.Pro398Thr
NM_003036.3:c.1192C>A	NP_003027.1:p.Pro398Thr
XM_005244775.2:c.1192C>A	XP_005244832.1:p.Pro398Thr
XM_005244776.3:c.322C>A	XP_005244833.1:p.Pro108Thr
XM_005244775.3:c.1192C>A	XP_005244832.1:p.Pro398Thr
XM_005244776.4:c.322C>A	XP_005244833.1:p.Pro108Thr
XM_017002128.1:c.700C>A	XP_016857617.1:p.Pro234Thr
NM_003036.4:c.1192C>A MANE Select	NP_003027.1:p.Pro398Thr