Canonical Allele Identifier: CA2877468
Gene: SEPSECS HGNC NCBI

Linked Data

ClinVar Variation Id: 378569
ClinVar RCV Id: RCV000428576
dbSNP Id: rs757504141

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156853T>C , CM000666.2:g.25156853T>C GRCh38
NC_000004.11:g.25158475T>C , CM000666.1:g.25158475T>C GRCh37
NC_000004.10:g.24767573T>C NCBI36
NG_028222.1:g.8730A>G

Transcript Alleles

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