Canonical Allele Identifier: CA356542545
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156862G>C , CM000666.2:g.25156862G>C GRCh38
NC_000004.11:g.25158484G>C , CM000666.1:g.25158484G>C GRCh37
NC_000004.10:g.24767582G>C NCBI36
NG_028222.1:g.8721C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.382C>G MANE Select ENSP00000371535.2:p.Leu128Val
ENST00000680581.1:c.382C>G ENSP00000506483.1:p.Leu128Val
ENST00000680824.1:n.1598C>G
ENST00000681071.1:n.674C>G
ENST00000681166.1:n.1429C>G
ENST00000681341.1:n.1523C>G
ENST00000681640.1:n.476C>G
ENST00000681948.1:c.637C>G ENSP00000505991.1:p.Leu213Val
ENST00000358971.7:c.*180C>G ENSP00000351857.3:n.*180C>G
ENST00000382103.6:c.382C>G ENSP00000371535.2:p.Leu128Val
ENST00000514585.5:c.*83C>G ENSP00000421880.1:n.*83C>G
NM_016955.3:c.382C>G NP_058651.3:p.Leu128Val
XM_005248168.2:c.145C>G XP_005248225.1:p.Leu49Val
XM_006713965.2:c.202C>G XP_006714028.1:p.Leu68Val
XM_011513846.1:c.379C>G XP_011512148.1:p.Leu127Val
XM_011513847.1:c.349C>G XP_011512149.1:p.Leu117Val
XM_011513848.1:c.202C>G XP_011512150.1:p.Leu68Val
XM_011513846.2:c.379C>G XP_011512148.1:p.Leu127Val
XM_011513847.2:c.349C>G XP_011512149.1:p.Leu117Val
XM_017008277.1:c.637C>G XP_016863766.1:p.Leu213Val
XM_017008278.1:c.-42C>G XP_016863767.1:n.-42C>G
NM_016955.4:c.382C>G MANE Select NP_058651.3:p.Leu128Val