Canonical Allele Identifier: CA10655542
Gene: SKI HGNC NCBI

Linked Data

dbSNP Id: rs12045693
gnomAD v2: 1-2205581-C-A
gnomAD v3: 1-2274142-C-A
gnomAD v4: 1-2274142-C-A
MyVariant Identifiers: chr1:g.2205581C>A (hg19) chr1:g.2274142C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2274142C>A , CM000663.2:g.2274142C>A GRCh38
NC_000001.10:g.2205581C>A , CM000663.1:g.2205581C>A GRCh37
NC_000001.9:g.2195441C>A NCBI36
NG_013084.1:g.50448C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000704337.1:n.138-28836C>A
ENST00000378536.5:c.970-28836C>A MANE Select ENSP00000367797.4:n.970-28836C>A
ENST00000378536.4:c.970-28836C>A ENSP00000367797.4:n.970-28836C>A
ENST00000478223.2:n.76+26071C>A
ENST00000508416.1:n.192-28836C>A
NM_003036.3:c.970-28836C>A NP_003027.1:n.970-28836C>A
XM_005244775.2:c.970-28836C>A XP_005244832.1:n.970-28836C>A
XM_005244776.3:c.100-28836C>A XP_005244833.1:n.100-28836C>A
XM_005244775.3:c.970-28836C>A XP_005244832.1:n.970-28836C>A
XM_005244776.4:c.100-28836C>A XP_005244833.1:n.100-28836C>A
XM_017002128.1:c.477+26071C>A XP_016857617.1:n.477+26071C>A
NM_003036.4:c.970-28836C>A MANE Select NP_003027.1:n.970-28836C>A
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