Canonical Allele Identifier: CA356542633
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156897T>A , CM000666.2:g.25156897T>A GRCh38
NC_000004.11:g.25158519T>A , CM000666.1:g.25158519T>A GRCh37
NC_000004.10:g.24767617T>A NCBI36
NG_028222.1:g.8686A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.347A>T MANE Select ENSP00000371535.2:p.Lys116Ile
ENST00000680581.1:c.347A>T ENSP00000506483.1:p.Lys116Ile
ENST00000680824.1:n.1563A>T
ENST00000681071.1:n.639A>T
ENST00000681166.1:n.1394A>T
ENST00000681341.1:n.1488A>T
ENST00000681640.1:n.441A>T
ENST00000681948.1:c.602A>T ENSP00000505991.1:p.Lys201Ile
ENST00000358971.7:c.*145A>T ENSP00000351857.3:n.*145A>T
ENST00000382103.6:c.347A>T ENSP00000371535.2:p.Lys116Ile
ENST00000514585.5:c.*48A>T ENSP00000421880.1:n.*48A>T
NM_016955.3:c.347A>T NP_058651.3:p.Lys116Ile
XM_005248168.2:c.110A>T XP_005248225.1:p.Lys37Ile
XM_006713965.2:c.167A>T XP_006714028.1:p.Lys56Ile
XM_011513846.1:c.344A>T XP_011512148.1:p.Lys115Ile
XM_011513847.1:c.314A>T XP_011512149.1:p.Lys105Ile
XM_011513848.1:c.167A>T XP_011512150.1:p.Lys56Ile
XM_011513846.2:c.344A>T XP_011512148.1:p.Lys115Ile
XM_011513847.2:c.314A>T XP_011512149.1:p.Lys105Ile
XM_017008277.1:c.602A>T XP_016863766.1:p.Lys201Ile
XM_017008278.1:c.-77A>T XP_016863767.1:n.-77A>T
NM_016955.4:c.347A>T MANE Select NP_058651.3:p.Lys116Ile