Canonical Allele Identifier: CA93576064
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs953540804
gnomAD v2: 4-25146431-A-T
gnomAD v4: 4-25144809-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144809A>T , CM000666.2:g.25144809A>T GRCh38
NC_000004.11:g.25146431A>T , CM000666.1:g.25146431A>T GRCh37
NC_000004.10:g.24755529A>T NCBI36
NG_028222.1:g.20774T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.991T>A MANE Select ENSP00000371535.2:p.Ser331Thr
ENST00000680581.1:c.991T>A ENSP00000506483.1:p.Ser331Thr
ENST00000680824.1:n.2207T>A
ENST00000681071.1:n.1283T>A
ENST00000681341.1:n.2132T>A
ENST00000681948.1:c.1246T>A ENSP00000505991.1:p.Ser416Thr
ENST00000358971.7:c.*789T>A ENSP00000351857.3:n.*789T>A
ENST00000382103.6:c.991T>A ENSP00000371535.2:p.Ser331Thr
ENST00000503150.1:c.273T>A
ENST00000505513.1:n.291T>A
ENST00000514585.5:c.*692T>A ENSP00000421880.1:n.*692T>A
NM_016955.3:c.991T>A NP_058651.3:p.Ser331Thr
XM_005248168.2:c.754T>A XP_005248225.1:p.Ser252Thr
XM_006713965.2:c.811T>A XP_006714028.1:p.Ser271Thr
XM_011513846.1:c.988T>A XP_011512148.1:p.Ser330Thr
XM_011513847.1:c.958T>A XP_011512149.1:p.Ser320Thr
XM_011513848.1:c.811T>A XP_011512150.1:p.Ser271Thr
XM_011513846.2:c.988T>A XP_011512148.1:p.Ser330Thr
XM_011513847.2:c.958T>A XP_011512149.1:p.Ser320Thr
XM_017008277.1:c.1246T>A XP_016863766.1:p.Ser416Thr
XM_017008278.1:c.568T>A XP_016863767.1:p.Ser190Thr
NM_016955.4:c.991T>A MANE Select NP_058651.3:p.Ser331Thr