Canonical Allele Identifier: CA337954363

Gene: SKI

Linked Data

• ClinVar Variation Id: 2752432
• ClinVar RCV Id: RCV003516943
• gnomAD v4: 1-2303303-C-T
• MyVariant Identifiers: chr1:g.2234742C>T (hg19) ; chr1:g.2303303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303303C>T , CM000663.2:g.2303303C>T	GRCh38
NC_000001.10:g.2234742C>T , CM000663.1:g.2234742C>T	GRCh37
NC_000001.9:g.2224602C>T	NCBI36
NG_013084.1:g.79609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.282C>T
ENST00000378536.5:c.1114C>T MANE Select	ENSP00000367797.4:p.Pro372Ser
ENST00000378536.4:c.1114C>T	ENSP00000367797.4:p.Pro372Ser
ENST00000478223.2:n.221C>T
NM_003036.3:c.1114C>T	NP_003027.1:p.Pro372Ser
XM_005244775.2:c.1114C>T	XP_005244832.1:p.Pro372Ser
XM_005244776.3:c.244C>T	XP_005244833.1:p.Pro82Ser
XM_005244775.3:c.1114C>T	XP_005244832.1:p.Pro372Ser
XM_005244776.4:c.244C>T	XP_005244833.1:p.Pro82Ser
XM_017002128.1:c.622C>T	XP_016857617.1:p.Pro208Ser
NM_003036.4:c.1114C>T MANE Select	NP_003027.1:p.Pro372Ser