Canonical Allele Identifier: CA356542546
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156862-G-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.382C>A MANE Select ENSP00000371535.2:p.Leu128Met
ENST00000680581.1:c.382C>A ENSP00000506483.1:p.Leu128Met
ENST00000680824.1:n.1598C>A
ENST00000681071.1:n.674C>A
ENST00000681166.1:n.1429C>A
ENST00000681341.1:n.1523C>A
ENST00000681640.1:n.476C>A
ENST00000681948.1:c.637C>A ENSP00000505991.1:p.Leu213Met
ENST00000358971.7:c.*180C>A ENSP00000351857.3:n.*180C>A
ENST00000382103.6:c.382C>A ENSP00000371535.2:p.Leu128Met
ENST00000514585.5:c.*83C>A ENSP00000421880.1:n.*83C>A
NM_016955.3:c.382C>A NP_058651.3:p.Leu128Met
XM_005248168.2:c.145C>A XP_005248225.1:p.Leu49Met
XM_006713965.2:c.202C>A XP_006714028.1:p.Leu68Met
XM_011513846.1:c.379C>A XP_011512148.1:p.Leu127Met
XM_011513847.1:c.349C>A XP_011512149.1:p.Leu117Met
XM_011513848.1:c.202C>A XP_011512150.1:p.Leu68Met
XM_011513846.2:c.379C>A XP_011512148.1:p.Leu127Met
XM_011513847.2:c.349C>A XP_011512149.1:p.Leu117Met
XM_017008277.1:c.637C>A XP_016863766.1:p.Leu213Met
XM_017008278.1:c.-42C>A XP_016863767.1:n.-42C>A
NM_016955.4:c.382C>A MANE Select NP_058651.3:p.Leu128Met