Canonical Allele Identifier: CA2574178319
Gene: SKI HGNC NCBI

Linked Data

gnomAD v4: 1-2303435-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2303435C>A , CM000663.2:g.2303435C>A GRCh38
NC_000001.10:g.2234874C>A , CM000663.1:g.2234874C>A GRCh37
NC_000001.9:g.2224734C>A NCBI36
NG_013084.1:g.79741C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704337.1:n.379+35C>A
ENST00000378536.5:c.1211+35C>A MANE Select ENSP00000367797.4:n.1211+35C>A
ENST00000378536.4:c.1211+35C>A ENSP00000367797.4:n.1211+35C>A
NM_003036.3:c.1211+35C>A NP_003027.1:n.1211+35C>A
XM_005244775.2:c.1211+35C>A XP_005244832.1:n.1211+35C>A
XM_005244776.3:c.341+35C>A XP_005244833.1:n.341+35C>A
XM_005244775.3:c.1211+35C>A XP_005244832.1:n.1211+35C>A
XM_005244776.4:c.341+35C>A XP_005244833.1:n.341+35C>A
XM_017002128.1:c.719+35C>A XP_016857617.1:n.719+35C>A
NM_003036.4:c.1211+35C>A MANE Select NP_003027.1:n.1211+35C>A
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