Canonical Allele Identifier: CA536701

Gene: SKI

Linked Data

• ClinVar Variation Id: 532216
• ClinVar RCV Id: RCV000638882 ; RCV001556997
• dbSNP Id: rs746659856
• ExAC: 1:2235473 C / T
• gnomAD v2: 1-2235473-C-T
• gnomAD v3: 1-2304034-C-T
• gnomAD v4: 1-2304034-C-T
• MyVariant Identifiers: chr1:g.2235473C>T (hg19) ; chr1:g.2304034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304034C>T , CM000663.2:g.2304034C>T	GRCh38
NC_000001.10:g.2235473C>T , CM000663.1:g.2235473C>T	GRCh37
NC_000001.9:g.2225333C>T	NCBI36
NG_013084.1:g.80340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378536.5:c.1406C>T MANE Select	ENSP00000367797.4:p.Ala469Val
ENST00000378536.4:c.1406C>T	ENSP00000367797.4:p.Ala469Val
ENST00000507179.1:n.389C>T
NM_003036.3:c.1406C>T	NP_003027.1:p.Ala469Val
XM_005244775.2:c.1406C>T	XP_005244832.1:p.Ala469Val
XM_005244776.3:c.536C>T	XP_005244833.1:p.Ala179Val
XM_005244775.3:c.1406C>T	XP_005244832.1:p.Ala469Val
XM_005244776.4:c.536C>T	XP_005244833.1:p.Ala179Val
XM_017002128.1:c.914C>T	XP_016857617.1:p.Ala305Val
NM_003036.4:c.1406C>T MANE Select	NP_003027.1:p.Ala469Val