Canonical Allele Identifier: CA356542547
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156863C>G , CM000666.2:g.25156863C>G GRCh38
NC_000004.11:g.25158485C>G , CM000666.1:g.25158485C>G GRCh37
NC_000004.10:g.24767583C>G NCBI36
NG_028222.1:g.8720G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.381G>C MANE Select ENSP00000371535.2:p.Lys127Asn
ENST00000680581.1:c.381G>C ENSP00000506483.1:p.Lys127Asn
ENST00000680824.1:n.1597G>C
ENST00000681071.1:n.673G>C
ENST00000681166.1:n.1428G>C
ENST00000681341.1:n.1522G>C
ENST00000681640.1:n.475G>C
ENST00000681948.1:c.636G>C ENSP00000505991.1:p.Lys212Asn
ENST00000358971.7:c.*179G>C ENSP00000351857.3:n.*179G>C
ENST00000382103.6:c.381G>C ENSP00000371535.2:p.Lys127Asn
ENST00000514585.5:c.*82G>C ENSP00000421880.1:n.*82G>C
NM_016955.3:c.381G>C NP_058651.3:p.Lys127Asn
XM_005248168.2:c.144G>C XP_005248225.1:p.Lys48Asn
XM_006713965.2:c.201G>C XP_006714028.1:p.Lys67Asn
XM_011513846.1:c.378G>C XP_011512148.1:p.Lys126Asn
XM_011513847.1:c.348G>C XP_011512149.1:p.Lys116Asn
XM_011513848.1:c.201G>C XP_011512150.1:p.Lys67Asn
XM_011513846.2:c.378G>C XP_011512148.1:p.Lys126Asn
XM_011513847.2:c.348G>C XP_011512149.1:p.Lys116Asn
XM_017008277.1:c.636G>C XP_016863766.1:p.Lys212Asn
XM_017008278.1:c.-43G>C XP_016863767.1:n.-43G>C
NM_016955.4:c.381G>C MANE Select NP_058651.3:p.Lys127Asn