Canonical Allele Identifier: CA16605066
Gene: SERAC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391194
ClinVar RCV Id: RCV000424539
dbSNP Id: rs1057524000

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114881C>T , CM000668.2:g.158114881C>T GRCh38
NC_000006.11:g.158535913C>T , CM000668.1:g.158535913C>T GRCh37
NC_000006.10:g.158455901C>T NCBI36
NG_032889.1:g.58400G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435180.6:c.804G>A ENSP00000391168.2:n.804G>A
ENST00000607071.6:c.*1312G>A ENSP00000475855.1:n.*1312G>A
ENST00000642244.1:c.1502G>A ENSP00000493554.1:p.Ser501Asn
ENST00000642903.1:c.1592G>A ENSP00000493559.1:p.Ser531Asn
ENST00000644972.1:c.1592G>A ENSP00000496451.1:p.Ser531Asn
ENST00000645077.1:c.*1213G>A ENSP00000496113.1:n.*1213G>A
ENST00000645172.1:c.*1294G>A ENSP00000495367.1:n.*1294G>A
ENST00000646190.1:n.2923G>A
ENST00000646208.1:c.1328G>A ENSP00000493723.1:p.Ser443Asn
ENST00000646410.1:c.1463G>A ENSP00000494205.1:p.Ser488Asn
ENST00000646562.1:c.*1426G>A ENSP00000496087.1:n.*1426G>A
ENST00000647468.2:c.1592G>A MANE Select ENSP00000496731.1:p.Ser531Asn
ENST00000648111.1:c.*1280G>A ENSP00000497275.1:n.*1280G>A
ENST00000367101.5:c.*40G>A ENSP00000356068.1:n.*40G>A
ENST00000367104.7:c.1592G>A ENSP00000356071.3:p.Ser531Asn
ENST00000435180.5:c.317G>A ENSP00000391168.1:p.Ser106Asn
ENST00000606965.5:c.*153G>A ENSP00000475808.1:n.*153G>A
ENST00000607071.5:c.*1526G>A ENSP00000475855.1:n.*1526G>A
ENST00000607742.5:c.*2870G>A ENSP00000475523.1:n.*2870G>A
NM_032861.3:c.1592G>A NP_116250.3:p.Ser531Asn
NR_073096.1:n.1525G>A
XM_006715586.1:c.1382G>A XP_006715649.1:p.Ser461Asn
XM_011536196.1:c.1571G>A XP_011534498.1:p.Ser524Asn
XM_011536197.1:c.1478G>A XP_011534499.1:p.Ser493Asn
XM_011536198.1:c.1382G>A XP_011534500.1:p.Ser461Asn
XM_006715586.3:c.1382G>A XP_006715649.1:p.Ser461Asn
XM_011536196.3:c.1571G>A XP_011534498.1:p.Ser524Asn
XM_011536198.3:c.1382G>A XP_011534500.1:p.Ser461Asn
XM_024446573.1:c.1592G>A XP_024302341.1:p.Ser531Asn
XR_001743697.2:n.1623G>A
XR_942606.2:n.1674G>A
NM_032861.4:c.1592G>A MANE Select NP_116250.3:p.Ser531Asn
NR_073096.2:n.1507G>A