Canonical Allele Identifier: CA2670196484
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25144689-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144689A>T , CM000666.2:g.25144689A>T GRCh38
NC_000004.11:g.25146311A>T , CM000666.1:g.25146311A>T GRCh37
NC_000004.10:g.24755409A>T NCBI36
NG_028222.1:g.20894T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.1026+85T>A MANE Select ENSP00000371535.2:n.1026+85T>A
ENST00000680581.1:c.1026+85T>A ENSP00000506483.1:n.1026+85T>A
ENST00000680824.1:n.2242+85T>A
ENST00000681071.1:n.1318+85T>A
ENST00000681341.1:n.2167+85T>A
ENST00000681948.1:c.1281+85T>A ENSP00000505991.1:n.1281+85T>A
ENST00000358971.7:c.*824+85T>A ENSP00000351857.3:n.*824+85T>A
ENST00000382103.6:c.1026+85T>A ENSP00000371535.2:n.1026+85T>A
ENST00000503150.1:c.308+85T>A
ENST00000505513.1:n.326+85T>A
ENST00000514585.5:c.*727+85T>A ENSP00000421880.1:n.*727+85T>A
NM_016955.3:c.1026+85T>A NP_058651.3:n.1026+85T>A
XM_005248168.2:c.789+85T>A XP_005248225.1:n.789+85T>A
XM_006713965.2:c.846+85T>A XP_006714028.1:n.846+85T>A
XM_011513846.1:c.1023+85T>A XP_011512148.1:n.1023+85T>A
XM_011513847.1:c.993+85T>A XP_011512149.1:n.993+85T>A
XM_011513848.1:c.846+85T>A XP_011512150.1:n.846+85T>A
XM_011513846.2:c.1023+85T>A XP_011512148.1:n.1023+85T>A
XM_011513847.2:c.993+85T>A XP_011512149.1:n.993+85T>A
XM_017008277.1:c.1281+85T>A XP_016863766.1:n.1281+85T>A
XM_017008278.1:c.603+85T>A XP_016863767.1:n.603+85T>A
NM_016955.4:c.1026+85T>A MANE Select NP_058651.3:n.1026+85T>A