Canonical Allele Identifier: CA356542561
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156869-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156869A>C , CM000666.2:g.25156869A>C GRCh38
NC_000004.11:g.25158491A>C , CM000666.1:g.25158491A>C GRCh37
NC_000004.10:g.24767589A>C NCBI36
NG_028222.1:g.8714T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.375T>G MANE Select ENSP00000371535.2:p.Ile125Met
ENST00000680581.1:c.375T>G ENSP00000506483.1:p.Ile125Met
ENST00000680824.1:n.1591T>G
ENST00000681071.1:n.667T>G
ENST00000681166.1:n.1422T>G
ENST00000681341.1:n.1516T>G
ENST00000681640.1:n.469T>G
ENST00000681948.1:c.630T>G ENSP00000505991.1:p.Ile210Met
ENST00000358971.7:c.*173T>G ENSP00000351857.3:n.*173T>G
ENST00000382103.6:c.375T>G ENSP00000371535.2:p.Ile125Met
ENST00000514585.5:c.*76T>G ENSP00000421880.1:n.*76T>G
NM_016955.3:c.375T>G NP_058651.3:p.Ile125Met
XM_005248168.2:c.138T>G XP_005248225.1:p.Ile46Met
XM_006713965.2:c.195T>G XP_006714028.1:p.Ile65Met
XM_011513846.1:c.372T>G XP_011512148.1:p.Ile124Met
XM_011513847.1:c.342T>G XP_011512149.1:p.Ile114Met
XM_011513848.1:c.195T>G XP_011512150.1:p.Ile65Met
XM_011513846.2:c.372T>G XP_011512148.1:p.Ile124Met
XM_011513847.2:c.342T>G XP_011512149.1:p.Ile114Met
XM_017008277.1:c.630T>G XP_016863766.1:p.Ile210Met
XM_017008278.1:c.-49T>G XP_016863767.1:n.-49T>G
NM_016955.4:c.375T>G MANE Select NP_058651.3:p.Ile125Met