Canonical Allele Identifier: CA356542540
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156859-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156859C>T , CM000666.2:g.25156859C>T GRCh38
NC_000004.11:g.25158481C>T , CM000666.1:g.25158481C>T GRCh37
NC_000004.10:g.24767579C>T NCBI36
NG_028222.1:g.8724G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.385G>A MANE Select ENSP00000371535.2:p.Ala129Thr
ENST00000680581.1:c.385G>A ENSP00000506483.1:p.Ala129Thr
ENST00000680824.1:n.1601G>A
ENST00000681071.1:n.677G>A
ENST00000681166.1:n.1432G>A
ENST00000681341.1:n.1526G>A
ENST00000681640.1:n.479G>A
ENST00000681948.1:c.640G>A ENSP00000505991.1:p.Ala214Thr
ENST00000358971.7:c.*183G>A ENSP00000351857.3:n.*183G>A
ENST00000382103.6:c.385G>A ENSP00000371535.2:p.Ala129Thr
ENST00000514585.5:c.*86G>A ENSP00000421880.1:n.*86G>A
NM_016955.3:c.385G>A NP_058651.3:p.Ala129Thr
XM_005248168.2:c.148G>A XP_005248225.1:p.Ala50Thr
XM_006713965.2:c.205G>A XP_006714028.1:p.Ala69Thr
XM_011513846.1:c.382G>A XP_011512148.1:p.Ala128Thr
XM_011513847.1:c.352G>A XP_011512149.1:p.Ala118Thr
XM_011513848.1:c.205G>A XP_011512150.1:p.Ala69Thr
XM_011513846.2:c.382G>A XP_011512148.1:p.Ala128Thr
XM_011513847.2:c.352G>A XP_011512149.1:p.Ala118Thr
XM_017008277.1:c.640G>A XP_016863766.1:p.Ala214Thr
XM_017008278.1:c.-39G>A XP_016863767.1:n.-39G>A
NM_016955.4:c.385G>A MANE Select NP_058651.3:p.Ala129Thr