Canonical Allele Identifier: CA356542583
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156880C>G , CM000666.2:g.25156880C>G GRCh38
NC_000004.11:g.25158502C>G , CM000666.1:g.25158502C>G GRCh37
NC_000004.10:g.24767600C>G NCBI36
NG_028222.1:g.8703G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.364G>C MANE Select ENSP00000371535.2:p.Val122Leu
ENST00000680581.1:c.364G>C ENSP00000506483.1:p.Val122Leu
ENST00000680824.1:n.1580G>C
ENST00000681071.1:n.656G>C
ENST00000681166.1:n.1411G>C
ENST00000681341.1:n.1505G>C
ENST00000681640.1:n.458G>C
ENST00000681948.1:c.619G>C ENSP00000505991.1:p.Val207Leu
ENST00000358971.7:c.*162G>C ENSP00000351857.3:n.*162G>C
ENST00000382103.6:c.364G>C ENSP00000371535.2:p.Val122Leu
ENST00000514585.5:c.*65G>C ENSP00000421880.1:n.*65G>C
NM_016955.3:c.364G>C NP_058651.3:p.Val122Leu
XM_005248168.2:c.127G>C XP_005248225.1:p.Val43Leu
XM_006713965.2:c.184G>C XP_006714028.1:p.Val62Leu
XM_011513846.1:c.361G>C XP_011512148.1:p.Val121Leu
XM_011513847.1:c.331G>C XP_011512149.1:p.Val111Leu
XM_011513848.1:c.184G>C XP_011512150.1:p.Val62Leu
XM_011513846.2:c.361G>C XP_011512148.1:p.Val121Leu
XM_011513847.2:c.331G>C XP_011512149.1:p.Val111Leu
XM_017008277.1:c.619G>C XP_016863766.1:p.Val207Leu
XM_017008278.1:c.-60G>C XP_016863767.1:n.-60G>C
NM_016955.4:c.364G>C MANE Select NP_058651.3:p.Val122Leu