Canonical Allele Identifier: CA415774222
Gene: SKI HGNC NCBI

Linked Data

ClinVar Variation Id: 463397
ClinVar RCV Id: RCV000527350 RCV002292560 RCV002413502
dbSNP Id: rs774187595
gnomAD v4: 1-2228949-G-C
MyVariant Identifiers: chr1:g.2160388G>C (hg19) chr1:g.2228949G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2228949G>C , CM000663.2:g.2228949G>C GRCh38
NC_000001.10:g.2160388G>C , CM000663.1:g.2160388G>C GRCh37
NC_000001.9:g.2150248G>C NCBI36
NG_013084.1:g.5255G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000704337.1:n.137+1425G>C
ENST00000378536.5:c.183G>C MANE Select ENSP00000367797.4:p.Pro61=
ENST00000378536.4:c.183G>C ENSP00000367797.4:p.Pro61=
NM_003036.3:c.183G>C NP_003027.1:p.Pro61=
XM_005244775.2:c.183G>C XP_005244832.1:p.Pro61=
XM_005244775.3:c.183G>C XP_005244832.1:p.Pro61=
NM_003036.4:c.183G>C MANE Select NP_003027.1:p.Pro61=
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