Canonical Allele Identifier: CA356542577
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156877G>C , CM000666.2:g.25156877G>C GRCh38
NC_000004.11:g.25158499G>C , CM000666.1:g.25158499G>C GRCh37
NC_000004.10:g.24767597G>C NCBI36
NG_028222.1:g.8706C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.367C>G MANE Select ENSP00000371535.2:p.Leu123Val
ENST00000680581.1:c.367C>G ENSP00000506483.1:p.Leu123Val
ENST00000680824.1:n.1583C>G
ENST00000681071.1:n.659C>G
ENST00000681166.1:n.1414C>G
ENST00000681341.1:n.1508C>G
ENST00000681640.1:n.461C>G
ENST00000681948.1:c.622C>G ENSP00000505991.1:p.Leu208Val
ENST00000358971.7:c.*165C>G ENSP00000351857.3:n.*165C>G
ENST00000382103.6:c.367C>G ENSP00000371535.2:p.Leu123Val
ENST00000514585.5:c.*68C>G ENSP00000421880.1:n.*68C>G
NM_016955.3:c.367C>G NP_058651.3:p.Leu123Val
XM_005248168.2:c.130C>G XP_005248225.1:p.Leu44Val
XM_006713965.2:c.187C>G XP_006714028.1:p.Leu63Val
XM_011513846.1:c.364C>G XP_011512148.1:p.Leu122Val
XM_011513847.1:c.334C>G XP_011512149.1:p.Leu112Val
XM_011513848.1:c.187C>G XP_011512150.1:p.Leu63Val
XM_011513846.2:c.364C>G XP_011512148.1:p.Leu122Val
XM_011513847.2:c.334C>G XP_011512149.1:p.Leu112Val
XM_017008277.1:c.622C>G XP_016863766.1:p.Leu208Val
XM_017008278.1:c.-57C>G XP_016863767.1:n.-57C>G
NM_016955.4:c.367C>G MANE Select NP_058651.3:p.Leu123Val