Canonical Allele Identifier: CA415774865

Gene: SKI

Linked Data

• ClinVar Variation Id: 463396
• ClinVar RCV Id: RCV000528551 ; RCV002314976
• dbSNP Id: rs1239990628
• gnomAD v2: 1-2235805-G-A
• gnomAD v4: 1-2304366-G-A
• MyVariant Identifiers: chr1:g.2235805G>A (hg19) ; chr1:g.2304366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304366G>A , CM000663.2:g.2304366G>A	GRCh38
NC_000001.10:g.2235805G>A , CM000663.1:g.2235805G>A	GRCh37
NC_000001.9:g.2225665G>A	NCBI36
NG_013084.1:g.80672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1548G>A MANE Select	ENSP00000367797.4:p.Pro516=
ENST00000378536.4:c.1548G>A	ENSP00000367797.4:p.Pro516=
ENST00000507179.1:n.537G>A
NM_003036.3:c.1548G>A	NP_003027.1:p.Pro516=
XM_005244775.2:c.1554G>A	XP_005244832.1:p.Pro518=
XM_005244776.3:c.684G>A	XP_005244833.1:p.Pro228=
XM_005244775.3:c.1554G>A	XP_005244832.1:p.Pro518=
XM_005244776.4:c.684G>A	XP_005244833.1:p.Pro228=
XM_017002128.1:c.1062G>A	XP_016857617.1:p.Pro354=
NM_003036.4:c.1548G>A MANE Select	NP_003027.1:p.Pro516=