Canonical Allele Identifier: CA356536824
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144821A>T , CM000666.2:g.25144821A>T GRCh38
NC_000004.11:g.25146443A>T , CM000666.1:g.25146443A>T GRCh37
NC_000004.10:g.24755541A>T NCBI36
NG_028222.1:g.20762T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.979T>A MANE Select ENSP00000371535.2:p.Leu327Met
ENST00000680581.1:c.979T>A ENSP00000506483.1:p.Leu327Met
ENST00000680824.1:n.2195T>A
ENST00000681071.1:n.1271T>A
ENST00000681341.1:n.2120T>A
ENST00000681948.1:c.1234T>A ENSP00000505991.1:p.Leu412Met
ENST00000358971.7:c.*777T>A ENSP00000351857.3:n.*777T>A
ENST00000382103.6:c.979T>A ENSP00000371535.2:p.Leu327Met
ENST00000503150.1:c.261T>A
ENST00000505513.1:n.279T>A
ENST00000514585.5:c.*680T>A ENSP00000421880.1:n.*680T>A
NM_016955.3:c.979T>A NP_058651.3:p.Leu327Met
XM_005248168.2:c.742T>A XP_005248225.1:p.Leu248Met
XM_006713965.2:c.799T>A XP_006714028.1:p.Leu267Met
XM_011513846.1:c.976T>A XP_011512148.1:p.Leu326Met
XM_011513847.1:c.946T>A XP_011512149.1:p.Leu316Met
XM_011513848.1:c.799T>A XP_011512150.1:p.Leu267Met
XM_011513846.2:c.976T>A XP_011512148.1:p.Leu326Met
XM_011513847.2:c.946T>A XP_011512149.1:p.Leu316Met
XM_017008277.1:c.1234T>A XP_016863766.1:p.Leu412Met
XM_017008278.1:c.556T>A XP_016863767.1:p.Leu186Met
NM_016955.4:c.979T>A MANE Select NP_058651.3:p.Leu327Met