Canonical Allele Identifier: CA536715
Gene: SKI HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2304084G>A
GRCh37 chr1:g.2235523G>A
Revel Score:
ENST00000378536 (MANE Select) 0.310
gnomAD v2:
1:2235523 G / A
gnomAD v3:
1:2304084 G / A
gnomAD v4:
chr1-2304084-G-A
Joint Max Group AF 0.00006226 (AFR)
Genomes Max Group AF 0.00001913 (AFR)
Exomes Max Group AF 0.00007715 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2304084G>A , CM000663.2:g.2304084G>A GRCh38
NC_000001.10:g.2235523G>A , CM000663.1:g.2235523G>A GRCh37
NC_000001.9:g.2225383G>A NCBI36
NG_013084.1:g.80390G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378536.5:c.1456G>A MANE Select ENSP00000367797.4:p.Val486Ile
ENST00000378536.4:c.1456G>A ENSP00000367797.4:p.Val486Ile
ENST00000507179.1:n.439G>A
NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile
XM_005244775.2:c.1456G>A XP_005244832.1:p.Val486Ile
XM_005244776.3:c.586G>A XP_005244833.1:p.Val196Ile
XM_005244775.3:c.1456G>A XP_005244832.1:p.Val486Ile
XM_005244776.4:c.586G>A XP_005244833.1:p.Val196Ile
XM_017002128.1:c.964G>A XP_016857617.1:p.Val322Ile
NM_003036.4:c.1456G>A MANE Select NP_003027.1:p.Val486Ile
Search 100 bp 5'
Search 100 bp 3'