Canonical Allele Identifier: CA356536973
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144859G>A , CM000666.2:g.25144859G>A GRCh38
NC_000004.11:g.25146481G>A , CM000666.1:g.25146481G>A GRCh37
NC_000004.10:g.24755579G>A NCBI36
NG_028222.1:g.20724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.941C>T MANE Select ENSP00000371535.2:p.Ala314Val
ENST00000680581.1:c.941C>T ENSP00000506483.1:p.Ala314Val
ENST00000680824.1:n.2157C>T
ENST00000681071.1:n.1233C>T
ENST00000681341.1:n.2082C>T
ENST00000681948.1:c.1196C>T ENSP00000505991.1:p.Ala399Val
ENST00000358971.7:c.*739C>T ENSP00000351857.3:n.*739C>T
ENST00000382103.6:c.941C>T ENSP00000371535.2:p.Ala314Val
ENST00000503150.1:c.223C>T
ENST00000505513.1:n.241C>T
ENST00000514585.5:c.*642C>T ENSP00000421880.1:n.*642C>T
NM_016955.3:c.941C>T NP_058651.3:p.Ala314Val
XM_005248168.2:c.704C>T XP_005248225.1:p.Ala235Val
XM_006713965.2:c.761C>T XP_006714028.1:p.Ala254Val
XM_011513846.1:c.938C>T XP_011512148.1:p.Ala313Val
XM_011513847.1:c.908C>T XP_011512149.1:p.Ala303Val
XM_011513848.1:c.761C>T XP_011512150.1:p.Ala254Val
XM_011513846.2:c.938C>T XP_011512148.1:p.Ala313Val
XM_011513847.2:c.908C>T XP_011512149.1:p.Ala303Val
XM_017008277.1:c.1196C>T XP_016863766.1:p.Ala399Val
XM_017008278.1:c.518C>T XP_016863767.1:p.Ala173Val
NM_016955.4:c.941C>T MANE Select NP_058651.3:p.Ala314Val