Canonical Allele Identifier: CA356542554
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156866-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156866T>C , CM000666.2:g.25156866T>C GRCh38
NC_000004.11:g.25158488T>C , CM000666.1:g.25158488T>C GRCh37
NC_000004.10:g.24767586T>C NCBI36
NG_028222.1:g.8717A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.378A>G MANE Select ENSP00000371535.2:p.Ile126Met
ENST00000680581.1:c.378A>G ENSP00000506483.1:p.Ile126Met
ENST00000680824.1:n.1594A>G
ENST00000681071.1:n.670A>G
ENST00000681166.1:n.1425A>G
ENST00000681341.1:n.1519A>G
ENST00000681640.1:n.472A>G
ENST00000681948.1:c.633A>G ENSP00000505991.1:p.Ile211Met
ENST00000358971.7:c.*176A>G ENSP00000351857.3:n.*176A>G
ENST00000382103.6:c.378A>G ENSP00000371535.2:p.Ile126Met
ENST00000514585.5:c.*79A>G ENSP00000421880.1:n.*79A>G
NM_016955.3:c.378A>G NP_058651.3:p.Ile126Met
XM_005248168.2:c.141A>G XP_005248225.1:p.Ile47Met
XM_006713965.2:c.198A>G XP_006714028.1:p.Ile66Met
XM_011513846.1:c.375A>G XP_011512148.1:p.Ile125Met
XM_011513847.1:c.345A>G XP_011512149.1:p.Ile115Met
XM_011513848.1:c.198A>G XP_011512150.1:p.Ile66Met
XM_011513846.2:c.375A>G XP_011512148.1:p.Ile125Met
XM_011513847.2:c.345A>G XP_011512149.1:p.Ile115Met
XM_017008277.1:c.633A>G XP_016863766.1:p.Ile211Met
XM_017008278.1:c.-46A>G XP_016863767.1:n.-46A>G
NM_016955.4:c.378A>G MANE Select NP_058651.3:p.Ile126Met