Canonical Allele Identifier: CA536514
Gene: SKI HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2302971A>G
GRCh37 chr1:g.2234410A>G
gnomAD v2:
1:2234410 A / G
gnomAD v3:
1:2302971 A / G
gnomAD v4:
chr1-2302971-A-G
Joint Max Group AF 0.00013403 (MID)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00014138 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2302971A>G , CM000663.2:g.2302971A>G GRCh38
NC_000001.10:g.2234410A>G , CM000663.1:g.2234410A>G GRCh37
NC_000001.9:g.2224270A>G NCBI36
NG_013084.1:g.79277A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704337.1:n.138-7A>G
ENST00000378536.5:c.970-7A>G MANE Select ENSP00000367797.4:n.970-7A>G
ENST00000378536.4:c.970-7A>G ENSP00000367797.4:n.970-7A>G
ENST00000478223.2:n.77-7A>G
ENST00000508416.1:n.192-7A>G
NM_003036.3:c.970-7A>G NP_003027.1:n.970-7A>G
XM_005244775.2:c.970-7A>G XP_005244832.1:n.970-7A>G
XM_005244776.3:c.100-7A>G XP_005244833.1:n.100-7A>G
XM_005244775.3:c.970-7A>G XP_005244832.1:n.970-7A>G
XM_005244776.4:c.100-7A>G XP_005244833.1:n.100-7A>G
XM_017002128.1:c.478-7A>G XP_016857617.1:n.478-7A>G
NM_003036.4:c.970-7A>G MANE Select NP_003027.1:n.970-7A>G
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