Canonical Allele Identifier: CA1675959423
Gene: SERAC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114856C= , CM000668.2:g.158114856C= GRCh38
NC_000006.11:g.158535888C= , CM000668.1:g.158535888C= GRCh37
NC_000006.10:g.158455876C= NCBI36
NG_032889.1:g.58425G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435180.6:c.829G= ENSP00000391168.2:n.829G=
ENST00000607071.6:c.*1337G= ENSP00000475855.1:n.*1337G=
ENST00000642244.1:c.1527G= ENSP00000493554.1:p.Leu509=
ENST00000642903.1:c.1617G= ENSP00000493559.1:p.Leu539=
ENST00000644972.1:c.1617G= ENSP00000496451.1:p.Leu539=
ENST00000645077.1:c.*1238G= ENSP00000496113.1:n.*1238G=
ENST00000645172.1:c.*1319G= ENSP00000495367.1:n.*1319G=
ENST00000646190.1:n.2948G=
ENST00000646208.1:c.1353G= ENSP00000493723.1:p.Leu451=
ENST00000646410.1:c.1488G= ENSP00000494205.1:p.Leu496=
ENST00000646562.1:c.*1451G= ENSP00000496087.1:n.*1451G=
ENST00000647468.2:c.1617G= MANE Select ENSP00000496731.1:p.Leu539=
ENST00000648111.1:c.*1305G= ENSP00000497275.1:n.*1305G=
ENST00000367101.5:c.*65G= ENSP00000356068.1:n.*65G=
ENST00000367104.7:c.1617G= ENSP00000356071.3:p.Leu539=
ENST00000435180.5:c.342G= ENSP00000391168.1:p.Leu114=
ENST00000606965.5:c.*178G= ENSP00000475808.1:n.*178G=
ENST00000607071.5:c.*1551G= ENSP00000475855.1:n.*1551G=
ENST00000607742.5:c.*2895G= ENSP00000475523.1:n.*2895G=
NM_032861.3:c.1617G= NP_116250.3:p.Leu539=
NR_073096.1:n.1550G=
XM_006715586.1:c.1407G= XP_006715649.1:p.Leu469=
XM_011536196.1:c.1596G= XP_011534498.1:p.Leu532=
XM_011536197.1:c.1503G= XP_011534499.1:p.Leu501=
XM_011536198.1:c.1407G= XP_011534500.1:p.Leu469=
XM_006715586.3:c.1407G= XP_006715649.1:p.Leu469=
XM_011536196.3:c.1596G= XP_011534498.1:p.Leu532=
XM_011536198.3:c.1407G= XP_011534500.1:p.Leu469=
XM_024446573.1:c.1617G= XP_024302341.1:p.Leu539=
XR_001743697.2:n.1648G=
XR_942606.2:n.1699G=
NM_032861.4:c.1617G= MANE Select NP_116250.3:p.Leu539=
NR_073096.2:n.1532G=