Canonical Allele Identifier: CA321677
Gene: SERAC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215140
dbSNP Id: rs863224200

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158146856C>T , CM000668.2:g.158146856C>T GRCh38
NC_000006.11:g.158567888C>T , CM000668.1:g.158567888C>T GRCh37
NC_000006.10:g.158487876C>T NCBI36
NG_032889.1:g.26425G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000607071.6:c.*247G>A ENSP00000475855.1:n.*247G>A
ENST00000642244.1:c.323G>A ENSP00000493554.1:p.Arg108Gln
ENST00000642903.1:c.413G>A ENSP00000493559.1:p.Arg138Gln
ENST00000644972.1:c.413G>A ENSP00000496451.1:p.Arg138Gln
ENST00000645077.1:c.*247G>A ENSP00000496113.1:n.*247G>A
ENST00000645172.1:c.*189+2009G>A ENSP00000495367.1:n.*189+2009G>A
ENST00000646190.1:n.1644G>A
ENST00000646208.1:c.149G>A ENSP00000493723.1:p.Arg50Gln
ENST00000646410.1:c.284G>A ENSP00000494205.1:p.Arg95Gln
ENST00000646562.1:c.*247G>A ENSP00000496087.1:n.*247G>A
ENST00000647468.2:c.413G>A MANE Select ENSP00000496731.1:p.Arg138Gln
ENST00000648111.1:c.*57G>A ENSP00000497275.1:n.*57G>A
ENST00000367101.5:c.413G>A ENSP00000356068.1:p.Arg138Gln
ENST00000367104.7:c.413G>A ENSP00000356071.3:p.Arg138Gln
ENST00000606965.5:c.413G>A ENSP00000475808.1:p.Arg138Gln
ENST00000607000.1:c.413G>A ENSP00000475788.1:p.Arg138Gln
ENST00000607071.5:c.*247G>A ENSP00000475855.1:n.*247G>A
ENST00000607742.5:c.*247G>A ENSP00000475523.1:n.*247G>A
NM_032861.3:c.413G>A NP_116250.3:p.Arg138Gln
NR_073096.1:n.555G>A
XM_006715586.1:c.203G>A XP_006715649.1:p.Arg68Gln
XM_011536196.1:c.392G>A XP_011534498.1:p.Arg131Gln
XM_011536197.1:c.413G>A XP_011534499.1:p.Arg138Gln
XM_011536198.1:c.203G>A XP_011534500.1:p.Arg68Gln
XR_942606.1:n.414G>A
XM_006715586.3:c.203G>A XP_006715649.1:p.Arg68Gln
XM_011536196.3:c.392G>A XP_011534498.1:p.Arg131Gln
XM_011536198.3:c.203G>A XP_011534500.1:p.Arg68Gln
XM_024446573.1:c.413G>A XP_024302341.1:p.Arg138Gln
XR_001743697.2:n.494G>A
XR_942606.2:n.545G>A
NM_032861.4:c.413G>A MANE Select NP_116250.3:p.Arg138Gln
NR_073096.2:n.537G>A