Canonical Allele Identifier: CA356542907
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156973-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156973A>G , CM000666.2:g.25156973A>G GRCh38
NC_000004.11:g.25158595A>G , CM000666.1:g.25158595A>G GRCh37
NC_000004.10:g.24767693A>G NCBI36
NG_028222.1:g.8610T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.271T>C MANE Select ENSP00000371535.2:p.Phe91Leu
ENST00000680581.1:c.271T>C ENSP00000506483.1:p.Phe91Leu
ENST00000680824.1:n.1487T>C
ENST00000681071.1:n.563T>C
ENST00000681166.1:n.1318T>C
ENST00000681341.1:n.1412T>C
ENST00000681640.1:n.365T>C
ENST00000681948.1:c.526T>C ENSP00000505991.1:p.Phe176Leu
ENST00000358971.7:c.*69T>C ENSP00000351857.3:n.*69T>C
ENST00000382103.6:c.271T>C ENSP00000371535.2:p.Phe91Leu
ENST00000514585.5:c.116T>C ENSP00000421880.1:p.Val39Ala
NM_016955.3:c.271T>C NP_058651.3:p.Phe91Leu
XM_005248168.2:c.34T>C XP_005248225.1:p.Phe12Leu
XM_006713965.2:c.91T>C XP_006714028.1:p.Phe31Leu
XM_011513846.1:c.268T>C XP_011512148.1:p.Phe90Leu
XM_011513847.1:c.238T>C XP_011512149.1:p.Phe80Leu
XM_011513848.1:c.91T>C XP_011512150.1:p.Phe31Leu
XM_011513846.2:c.268T>C XP_011512148.1:p.Phe90Leu
XM_011513847.2:c.238T>C XP_011512149.1:p.Phe80Leu
XM_017008277.1:c.526T>C XP_016863766.1:p.Phe176Leu
XM_017008278.1:c.-153T>C XP_016863767.1:n.-153T>C
NM_016955.4:c.271T>C MANE Select NP_058651.3:p.Phe91Leu