Canonical Allele Identifier: CA356542619
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156895T>A , CM000666.2:g.25156895T>A GRCh38
NC_000004.11:g.25158517T>A , CM000666.1:g.25158517T>A GRCh37
NC_000004.10:g.24767615T>A NCBI36
NG_028222.1:g.8688A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.349A>T MANE Select ENSP00000371535.2:p.Ile117Phe
ENST00000680581.1:c.349A>T ENSP00000506483.1:p.Ile117Phe
ENST00000680824.1:n.1565A>T
ENST00000681071.1:n.641A>T
ENST00000681166.1:n.1396A>T
ENST00000681341.1:n.1490A>T
ENST00000681640.1:n.443A>T
ENST00000681948.1:c.604A>T ENSP00000505991.1:p.Ile202Phe
ENST00000358971.7:c.*147A>T ENSP00000351857.3:n.*147A>T
ENST00000382103.6:c.349A>T ENSP00000371535.2:p.Ile117Phe
ENST00000514585.5:c.*50A>T ENSP00000421880.1:n.*50A>T
NM_016955.3:c.349A>T NP_058651.3:p.Ile117Phe
XM_005248168.2:c.112A>T XP_005248225.1:p.Ile38Phe
XM_006713965.2:c.169A>T XP_006714028.1:p.Ile57Phe
XM_011513846.1:c.346A>T XP_011512148.1:p.Ile116Phe
XM_011513847.1:c.316A>T XP_011512149.1:p.Ile106Phe
XM_011513848.1:c.169A>T XP_011512150.1:p.Ile57Phe
XM_011513846.2:c.346A>T XP_011512148.1:p.Ile116Phe
XM_011513847.2:c.316A>T XP_011512149.1:p.Ile106Phe
XM_017008277.1:c.604A>T XP_016863766.1:p.Ile202Phe
XM_017008278.1:c.-75A>T XP_016863767.1:n.-75A>T
NM_016955.4:c.349A>T MANE Select NP_058651.3:p.Ile117Phe