Canonical Allele Identifier: CA4934023
Gene: SHARPIN HGNC NCBI

Linked Data

ClinVar Variation Id: 403434
ClinVar RCV Id: RCV000454723
dbSNP Id: rs11136254
ExAC: 8:145158503 G / T
gnomAD v2: 8-145158503-G-T
gnomAD v3: 8-144103600-G-T
gnomAD v4: 8-144103600-G-T
MyVariant Identifiers: chr8:g.145158503G>T (hg19) chr8:g.144103600G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144103600G>T , CM000670.2:g.144103600G>T GRCh38
NC_000008.10:g.145158503G>T , CM000670.1:g.145158503G>T GRCh37
NC_000008.9:g.145230491G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398712.7:c.154C>A MANE Select ENSP00000381698.2:p.Arg52=
ENST00000359551.6:c.154C>A ENSP00000352551.6:p.Arg52=
ENST00000398712.6:c.154C>A ENSP00000381698.2:p.Arg52=
ENST00000531375.1:n.157C>A
ENST00000533184.1:n.244-375C>A
ENST00000533948.1:n.423+247C>A
ENST00000534242.5:n.227-375C>A
ENST00000534435.1:n.73-375C>A
NM_030974.3:c.154C>A NP_112236.3:p.Arg52=
NR_038270.1:n.636C>A
XM_017013887.2:c.154C>A XP_016869376.1:p.Arg52=
XM_017013888.2:c.154C>A XP_016869377.1:p.Arg52=
NM_030974.4:c.154C>A MANE Select NP_112236.3:p.Arg52=
NR_038270.2:n.174C>A
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