Canonical Allele Identifier: CA356536962
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1424831605
gnomAD v3: 4-25144856-G-T
gnomAD v4: 4-25144856-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144856G>T , CM000666.2:g.25144856G>T GRCh38
NC_000004.11:g.25146478G>T , CM000666.1:g.25146478G>T GRCh37
NC_000004.10:g.24755576G>T NCBI36
NG_028222.1:g.20727C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.944C>A MANE Select ENSP00000371535.2:p.Ser315Ter
ENST00000680581.1:c.944C>A ENSP00000506483.1:p.Ser315Ter
ENST00000680824.1:n.2160C>A
ENST00000681071.1:n.1236C>A
ENST00000681341.1:n.2085C>A
ENST00000681948.1:c.1199C>A ENSP00000505991.1:p.Ser400Ter
ENST00000358971.7:c.*742C>A ENSP00000351857.3:n.*742C>A
ENST00000382103.6:c.944C>A ENSP00000371535.2:p.Ser315Ter
ENST00000503150.1:c.226C>A
ENST00000505513.1:n.244C>A
ENST00000514585.5:c.*645C>A ENSP00000421880.1:n.*645C>A
NM_016955.3:c.944C>A NP_058651.3:p.Ser315Ter
XM_005248168.2:c.707C>A XP_005248225.1:p.Ser236Ter
XM_006713965.2:c.764C>A XP_006714028.1:p.Ser255Ter
XM_011513846.1:c.941C>A XP_011512148.1:p.Ser314Ter
XM_011513847.1:c.911C>A XP_011512149.1:p.Ser304Ter
XM_011513848.1:c.764C>A XP_011512150.1:p.Ser255Ter
XM_011513846.2:c.941C>A XP_011512148.1:p.Ser314Ter
XM_011513847.2:c.911C>A XP_011512149.1:p.Ser304Ter
XM_017008277.1:c.1199C>A XP_016863766.1:p.Ser400Ter
XM_017008278.1:c.521C>A XP_016863767.1:p.Ser174Ter
NM_016955.4:c.944C>A MANE Select NP_058651.3:p.Ser315Ter