Canonical Allele Identifier: CA550289862
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1317209045
gnomAD v2: 4-25158385-C-G
gnomAD v4: 4-25156763-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156763C>G , CM000666.2:g.25156763C>G GRCh38
NC_000004.11:g.25158385C>G , CM000666.1:g.25158385C>G GRCh37
NC_000004.10:g.24767483C>G NCBI36
NG_028222.1:g.8820G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.388+93G>C MANE Select ENSP00000371535.2:n.388+93G>C
ENST00000680581.1:c.388+93G>C ENSP00000506483.1:n.388+93G>C
ENST00000680824.1:n.1604+93G>C
ENST00000681071.1:n.680+93G>C
ENST00000681166.1:n.1435+93G>C
ENST00000681341.1:n.1529+93G>C
ENST00000681640.1:n.482+93G>C
ENST00000681948.1:c.643+93G>C ENSP00000505991.1:n.643+93G>C
ENST00000358971.7:c.*186+93G>C ENSP00000351857.3:n.*186+93G>C
ENST00000382103.6:c.388+93G>C ENSP00000371535.2:n.388+93G>C
ENST00000514585.5:c.*89+93G>C ENSP00000421880.1:n.*89+93G>C
NM_016955.3:c.388+93G>C NP_058651.3:n.388+93G>C
XM_005248168.2:c.151+93G>C XP_005248225.1:n.151+93G>C
XM_006713965.2:c.208+93G>C XP_006714028.1:n.208+93G>C
XM_011513846.1:c.385+93G>C XP_011512148.1:n.385+93G>C
XM_011513847.1:c.355+93G>C XP_011512149.1:n.355+93G>C
XM_011513848.1:c.208+93G>C XP_011512150.1:n.208+93G>C
XM_011513846.2:c.385+93G>C XP_011512148.1:n.385+93G>C
XM_011513847.2:c.355+93G>C XP_011512149.1:n.355+93G>C
XM_017008277.1:c.643+93G>C XP_016863766.1:n.643+93G>C
XM_017008278.1:c.-36+93G>C XP_016863767.1:n.-36+93G>C
NM_016955.4:c.388+93G>C MANE Select NP_058651.3:n.388+93G>C