Canonical Allele Identifier: CA337954659

Gene: SKI

Linked Data

• MyVariant Identifiers: chr1:g.2234833G>T (hg19) ; chr1:g.2303394G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303394G>T , CM000663.2:g.2303394G>T	GRCh38
NC_000001.10:g.2234833G>T , CM000663.1:g.2234833G>T	GRCh37
NC_000001.9:g.2224693G>T	NCBI36
NG_013084.1:g.79700G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.373G>T
ENST00000378536.5:c.1205G>T MANE Select	ENSP00000367797.4:p.Arg402Leu
ENST00000378536.4:c.1205G>T	ENSP00000367797.4:p.Arg402Leu
NM_003036.3:c.1205G>T	NP_003027.1:p.Arg402Leu
XM_005244775.2:c.1205G>T	XP_005244832.1:p.Arg402Leu
XM_005244776.3:c.335G>T	XP_005244833.1:p.Arg112Leu
XM_005244775.3:c.1205G>T	XP_005244832.1:p.Arg402Leu
XM_005244776.4:c.335G>T	XP_005244833.1:p.Arg112Leu
XM_017002128.1:c.713G>T	XP_016857617.1:p.Arg238Leu
NM_003036.4:c.1205G>T MANE Select	NP_003027.1:p.Arg402Leu