Canonical Allele Identifier: CA366254942
Gene: SERAC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114818G>T , CM000668.2:g.158114818G>T GRCh38
NC_000006.11:g.158535850G>T , CM000668.1:g.158535850G>T GRCh37
NC_000006.10:g.158455838G>T NCBI36
NG_032889.1:g.58463C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000607071.6:c.*1375C>A ENSP00000475855.1:n.*1375C>A
ENST00000642244.1:c.1565C>A ENSP00000493554.1:p.Pro522His
ENST00000642903.1:c.1655C>A ENSP00000493559.1:p.Pro552His
ENST00000644972.1:c.1655C>A ENSP00000496451.1:p.Pro552His
ENST00000645077.1:c.*1276C>A ENSP00000496113.1:n.*1276C>A
ENST00000645172.1:c.*1357C>A ENSP00000495367.1:n.*1357C>A
ENST00000646190.1:n.2986C>A
ENST00000646208.1:c.1391C>A ENSP00000493723.1:p.Pro464His
ENST00000646410.1:c.1526C>A ENSP00000494205.1:p.Pro509His
ENST00000646562.1:c.*1489C>A ENSP00000496087.1:n.*1489C>A
ENST00000647468.2:c.1655C>A MANE Select ENSP00000496731.1:p.Pro552His
ENST00000648111.1:c.*1343C>A ENSP00000497275.1:n.*1343C>A
ENST00000367101.5:c.*103C>A ENSP00000356068.1:n.*103C>A
ENST00000367104.7:c.1655C>A ENSP00000356071.3:p.Pro552His
ENST00000435180.5:c.380C>A ENSP00000391168.1:p.Pro127His
ENST00000606965.5:c.*216C>A ENSP00000475808.1:n.*216C>A
ENST00000607071.5:c.*1589C>A ENSP00000475855.1:n.*1589C>A
ENST00000607742.5:c.*2933C>A ENSP00000475523.1:n.*2933C>A
NM_032861.3:c.1655C>A NP_116250.3:p.Pro552His
NR_073096.1:n.1588C>A
XM_006715586.1:c.1445C>A XP_006715649.1:p.Pro482His
XM_011536196.1:c.1634C>A XP_011534498.1:p.Pro545His
XM_011536197.1:c.1541C>A XP_011534499.1:p.Pro514His
XM_011536198.1:c.1445C>A XP_011534500.1:p.Pro482His
XM_006715586.3:c.1445C>A XP_006715649.1:p.Pro482His
XM_011536196.3:c.1634C>A XP_011534498.1:p.Pro545His
XM_011536198.3:c.1445C>A XP_011534500.1:p.Pro482His
XM_024446573.1:c.1655C>A XP_024302341.1:p.Pro552His
XR_001743697.2:n.1686C>A
XR_942606.2:n.1737C>A
NM_032861.4:c.1655C>A MANE Select NP_116250.3:p.Pro552His
NR_073096.2:n.1570C>A