Canonical Allele Identifier: CA238764

Gene: SKI

Linked Data

• ClinVar Variation Id: 193249
• ClinVar RCV Id: RCV000225703 ; RCV000724766 ; RCV001086944 ; RCV002311028
• dbSNP Id: rs756778048
• ExAC: 1:2160421 C / T
• gnomAD v2: 1-2160421-C-T
• gnomAD v3: 1-2228982-C-T
• gnomAD v4: 1-2228982-C-T
• MyVariant Identifiers: chr1:g.2160421C>T (hg19) ; chr1:g.2228982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2228982C>T , CM000663.2:g.2228982C>T	GRCh38
NC_000001.10:g.2160421C>T , CM000663.1:g.2160421C>T	GRCh37
NC_000001.9:g.2150281C>T	NCBI36
NG_013084.1:g.5288C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.137+1458C>T
ENST00000378536.5:c.216C>T MANE Select	ENSP00000367797.4:p.Pro72=
ENST00000378536.4:c.216C>T	ENSP00000367797.4:p.Pro72=
NM_003036.3:c.216C>T	NP_003027.1:p.Pro72=
XM_005244775.2:c.216C>T	XP_005244832.1:p.Pro72=
XM_005244775.3:c.216C>T	XP_005244832.1:p.Pro72=
NM_003036.4:c.216C>T MANE Select	NP_003027.1:p.Pro72=