Canonical Allele Identifier: CA536701
Gene: SKI HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2304034C>T
GRCh37 chr1:g.2235473C>T
Revel Score:
ENST00000378536 (MANE Select) 0.196
gnomAD v2:
1:2235473 C / T
gnomAD v3:
1:2304034 C / T
gnomAD v4:
chr1-2304034-C-T
Joint Max Group AF 0.00010207 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00010435 (AMR)
ClinVar RCV:
RCV000638882
RCV001556997
ClinVar Variation:
532216
dbSNP:
746659856
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'