Canonical Allele Identifier: CA356536859
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144830T>A , CM000666.2:g.25144830T>A GRCh38
NC_000004.11:g.25146452T>A , CM000666.1:g.25146452T>A GRCh37
NC_000004.10:g.24755550T>A NCBI36
NG_028222.1:g.20753A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.970A>T MANE Select ENSP00000371535.2:p.Ile324Phe
ENST00000680581.1:c.970A>T ENSP00000506483.1:p.Ile324Phe
ENST00000680824.1:n.2186A>T
ENST00000681071.1:n.1262A>T
ENST00000681341.1:n.2111A>T
ENST00000681948.1:c.1225A>T ENSP00000505991.1:p.Ile409Phe
ENST00000358971.7:c.*768A>T ENSP00000351857.3:n.*768A>T
ENST00000382103.6:c.970A>T ENSP00000371535.2:p.Ile324Phe
ENST00000503150.1:c.252A>T
ENST00000505513.1:n.270A>T
ENST00000514585.5:c.*671A>T ENSP00000421880.1:n.*671A>T
NM_016955.3:c.970A>T NP_058651.3:p.Ile324Phe
XM_005248168.2:c.733A>T XP_005248225.1:p.Ile245Phe
XM_006713965.2:c.790A>T XP_006714028.1:p.Ile264Phe
XM_011513846.1:c.967A>T XP_011512148.1:p.Ile323Phe
XM_011513847.1:c.937A>T XP_011512149.1:p.Ile313Phe
XM_011513848.1:c.790A>T XP_011512150.1:p.Ile264Phe
XM_011513846.2:c.967A>T XP_011512148.1:p.Ile323Phe
XM_011513847.2:c.937A>T XP_011512149.1:p.Ile313Phe
XM_017008277.1:c.1225A>T XP_016863766.1:p.Ile409Phe
XM_017008278.1:c.547A>T XP_016863767.1:p.Ile183Phe
NM_016955.4:c.970A>T MANE Select NP_058651.3:p.Ile324Phe