Canonical Allele Identifier: CA356542631
Gene: SEPSECS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156896T>G , CM000666.2:g.25156896T>G GRCh38
NC_000004.11:g.25158518T>G , CM000666.1:g.25158518T>G GRCh37
NC_000004.10:g.24767616T>G NCBI36
NG_028222.1:g.8687A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.348A>C MANE Select ENSP00000371535.2:p.Lys116Asn
ENST00000680581.1:c.348A>C ENSP00000506483.1:p.Lys116Asn
ENST00000680824.1:n.1564A>C
ENST00000681071.1:n.640A>C
ENST00000681166.1:n.1395A>C
ENST00000681341.1:n.1489A>C
ENST00000681640.1:n.442A>C
ENST00000681948.1:c.603A>C ENSP00000505991.1:p.Lys201Asn
ENST00000358971.7:c.*146A>C ENSP00000351857.3:n.*146A>C
ENST00000382103.6:c.348A>C ENSP00000371535.2:p.Lys116Asn
ENST00000514585.5:c.*49A>C ENSP00000421880.1:n.*49A>C
NM_016955.3:c.348A>C NP_058651.3:p.Lys116Asn
XM_005248168.2:c.111A>C XP_005248225.1:p.Lys37Asn
XM_006713965.2:c.168A>C XP_006714028.1:p.Lys56Asn
XM_011513846.1:c.345A>C XP_011512148.1:p.Lys115Asn
XM_011513847.1:c.315A>C XP_011512149.1:p.Lys105Asn
XM_011513848.1:c.168A>C XP_011512150.1:p.Lys56Asn
XM_011513846.2:c.345A>C XP_011512148.1:p.Lys115Asn
XM_011513847.2:c.315A>C XP_011512149.1:p.Lys105Asn
XM_017008277.1:c.603A>C XP_016863766.1:p.Lys201Asn
XM_017008278.1:c.-76A>C XP_016863767.1:n.-76A>C
NM_016955.4:c.348A>C MANE Select NP_058651.3:p.Lys116Asn