Canonical Allele Identifier: CA550289865
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1411378260
gnomAD v2: 4-25158444-C-T
gnomAD v4: 4-25156822-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156822C>T , CM000666.2:g.25156822C>T GRCh38
NC_000004.11:g.25158444C>T , CM000666.1:g.25158444C>T GRCh37
NC_000004.10:g.24767542C>T NCBI36
NG_028222.1:g.8761G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.388+34G>A MANE Select ENSP00000371535.2:n.388+34G>A
ENST00000680581.1:c.388+34G>A ENSP00000506483.1:n.388+34G>A
ENST00000680824.1:n.1604+34G>A
ENST00000681071.1:n.680+34G>A
ENST00000681166.1:n.1435+34G>A
ENST00000681341.1:n.1529+34G>A
ENST00000681640.1:n.482+34G>A
ENST00000681948.1:c.643+34G>A ENSP00000505991.1:n.643+34G>A
ENST00000358971.7:c.*186+34G>A ENSP00000351857.3:n.*186+34G>A
ENST00000382103.6:c.388+34G>A ENSP00000371535.2:n.388+34G>A
ENST00000514585.5:c.*89+34G>A ENSP00000421880.1:n.*89+34G>A
NM_016955.3:c.388+34G>A NP_058651.3:n.388+34G>A
XM_005248168.2:c.151+34G>A XP_005248225.1:n.151+34G>A
XM_006713965.2:c.208+34G>A XP_006714028.1:n.208+34G>A
XM_011513846.1:c.385+34G>A XP_011512148.1:n.385+34G>A
XM_011513847.1:c.355+34G>A XP_011512149.1:n.355+34G>A
XM_011513848.1:c.208+34G>A XP_011512150.1:n.208+34G>A
XM_011513846.2:c.385+34G>A XP_011512148.1:n.385+34G>A
XM_011513847.2:c.355+34G>A XP_011512149.1:n.355+34G>A
XM_017008277.1:c.643+34G>A XP_016863766.1:n.643+34G>A
XM_017008278.1:c.-36+34G>A XP_016863767.1:n.-36+34G>A
NM_016955.4:c.388+34G>A MANE Select NP_058651.3:n.388+34G>A