Canonical Allele Identifier: CA323988
Gene: SKI HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2303832C>T
GRCh37 chr1:g.2235271C>T
gnomAD v2:
1:2235271 C / T
gnomAD v3:
1:2303832 C / T
gnomAD v4:
chr1-2303832-C-T
Joint Max Group AF 0.00004183 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00004006 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2303832C>T , CM000663.2:g.2303832C>T GRCh38
NC_000001.10:g.2235271C>T , CM000663.1:g.2235271C>T GRCh37
NC_000001.9:g.2225131C>T NCBI36
NG_013084.1:g.80138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704337.1:n.380-8C>T
ENST00000378536.5:c.1212-8C>T MANE Select ENSP00000367797.4:n.1212-8C>T
ENST00000378536.4:c.1212-8C>T ENSP00000367797.4:n.1212-8C>T
ENST00000507179.1:n.187C>T
NM_003036.3:c.1212-8C>T NP_003027.1:n.1212-8C>T
XM_005244775.2:c.1212-8C>T XP_005244832.1:n.1212-8C>T
XM_005244776.3:c.342-8C>T XP_005244833.1:n.342-8C>T
XM_005244775.3:c.1212-8C>T XP_005244832.1:n.1212-8C>T
XM_005244776.4:c.342-8C>T XP_005244833.1:n.342-8C>T
XM_017002128.1:c.720-8C>T XP_016857617.1:n.720-8C>T
NM_003036.4:c.1212-8C>T MANE Select NP_003027.1:n.1212-8C>T
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