Canonical Allele Identifier: CA356542896
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156971-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156971G>T , CM000666.2:g.25156971G>T GRCh38
NC_000004.11:g.25158593G>T , CM000666.1:g.25158593G>T GRCh37
NC_000004.10:g.24767691G>T NCBI36
NG_028222.1:g.8612C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.273C>A MANE Select ENSP00000371535.2:p.Phe91Leu
ENST00000680581.1:c.273C>A ENSP00000506483.1:p.Phe91Leu
ENST00000680824.1:n.1489C>A
ENST00000681071.1:n.565C>A
ENST00000681166.1:n.1320C>A
ENST00000681341.1:n.1414C>A
ENST00000681640.1:n.367C>A
ENST00000681948.1:c.528C>A ENSP00000505991.1:p.Phe176Leu
ENST00000358971.7:c.*71C>A ENSP00000351857.3:n.*71C>A
ENST00000382103.6:c.273C>A ENSP00000371535.2:p.Phe91Leu
ENST00000514585.5:c.118C>A ENSP00000421880.1:p.His40Asn
NM_016955.3:c.273C>A NP_058651.3:p.Phe91Leu
XM_005248168.2:c.36C>A XP_005248225.1:p.Phe12Leu
XM_006713965.2:c.93C>A XP_006714028.1:p.Phe31Leu
XM_011513846.1:c.270C>A XP_011512148.1:p.Phe90Leu
XM_011513847.1:c.240C>A XP_011512149.1:p.Phe80Leu
XM_011513848.1:c.93C>A XP_011512150.1:p.Phe31Leu
XM_011513846.2:c.270C>A XP_011512148.1:p.Phe90Leu
XM_011513847.2:c.240C>A XP_011512149.1:p.Phe80Leu
XM_017008277.1:c.528C>A XP_016863766.1:p.Phe176Leu
XM_017008278.1:c.-151C>A XP_016863767.1:n.-151C>A
NM_016955.4:c.273C>A MANE Select NP_058651.3:p.Phe91Leu