Canonical Allele Identifier: CA366254691
Gene: SERAC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158114735C>G , CM000668.2:g.158114735C>G GRCh38
NC_000006.11:g.158535767C>G , CM000668.1:g.158535767C>G GRCh37
NC_000006.10:g.158455755C>G NCBI36
NG_032889.1:g.58546G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000607071.6:c.*1404+54G>C ENSP00000475855.1:n.*1404+54G>C
ENST00000642244.1:c.1594+54G>C ENSP00000493554.1:n.1594+54G>C
ENST00000642903.1:c.1738G>C ENSP00000493559.1:p.Glu580Gln
ENST00000644972.1:c.1684+54G>C ENSP00000496451.1:n.1684+54G>C
ENST00000645077.1:c.*1305+54G>C ENSP00000496113.1:n.*1305+54G>C
ENST00000645172.1:c.*1386+54G>C ENSP00000495367.1:n.*1386+54G>C
ENST00000646190.1:n.3015+54G>C
ENST00000646208.1:c.1420+54G>C ENSP00000493723.1:n.1420+54G>C
ENST00000646410.1:c.1555+54G>C ENSP00000494205.1:n.1555+54G>C
ENST00000646562.1:c.*1572G>C ENSP00000496087.1:n.*1572G>C
ENST00000647468.2:c.1684+54G>C MANE Select ENSP00000496731.1:n.1684+54G>C
ENST00000648111.1:c.*1372+54G>C ENSP00000497275.1:n.*1372+54G>C
ENST00000367101.5:c.*186G>C ENSP00000356068.1:n.*186G>C
ENST00000367104.7:c.1684+54G>C ENSP00000356071.3:n.1684+54G>C
ENST00000435180.5:c.463G>C ENSP00000391168.1:p.Glu155Gln
ENST00000606965.5:c.*299G>C ENSP00000475808.1:n.*299G>C
ENST00000607071.5:c.*1618+54G>C ENSP00000475855.1:n.*1618+54G>C
ENST00000607742.5:c.*2962+54G>C ENSP00000475523.1:n.*2962+54G>C
NM_032861.3:c.1684+54G>C NP_116250.3:n.1684+54G>C
NR_073096.1:n.1671G>C
XM_006715586.1:c.1474+54G>C XP_006715649.1:n.1474+54G>C
XM_011536196.1:c.1663+54G>C XP_011534498.1:n.1663+54G>C
XM_011536197.1:c.1570+54G>C XP_011534499.1:n.1570+54G>C
XM_011536198.1:c.1474+54G>C XP_011534500.1:n.1474+54G>C
XM_006715586.3:c.1474+54G>C XP_006715649.1:n.1474+54G>C
XM_011536196.3:c.1663+54G>C XP_011534498.1:n.1663+54G>C
XM_011536198.3:c.1474+54G>C XP_011534500.1:n.1474+54G>C
XM_024446573.1:c.1684+54G>C XP_024302341.1:n.1684+54G>C
XR_001743697.2:n.1715+54G>C
XR_942606.2:n.1766+54G>C
NM_032861.4:c.1684+54G>C MANE Select NP_116250.3:n.1684+54G>C
NR_073096.2:n.1653G>C