Canonical Allele Identifier: CA2670197251
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156811-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156811G>A , CM000666.2:g.25156811G>A GRCh38
NC_000004.11:g.25158433G>A , CM000666.1:g.25158433G>A GRCh37
NC_000004.10:g.24767531G>A NCBI36
NG_028222.1:g.8772C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.388+45C>T MANE Select ENSP00000371535.2:n.388+45C>T
ENST00000680581.1:c.388+45C>T ENSP00000506483.1:n.388+45C>T
ENST00000680824.1:n.1604+45C>T
ENST00000681071.1:n.680+45C>T
ENST00000681166.1:n.1435+45C>T
ENST00000681341.1:n.1529+45C>T
ENST00000681640.1:n.482+45C>T
ENST00000681948.1:c.643+45C>T ENSP00000505991.1:n.643+45C>T
ENST00000358971.7:c.*186+45C>T ENSP00000351857.3:n.*186+45C>T
ENST00000382103.6:c.388+45C>T ENSP00000371535.2:n.388+45C>T
ENST00000514585.5:c.*89+45C>T ENSP00000421880.1:n.*89+45C>T
NM_016955.3:c.388+45C>T NP_058651.3:n.388+45C>T
XM_005248168.2:c.151+45C>T XP_005248225.1:n.151+45C>T
XM_006713965.2:c.208+45C>T XP_006714028.1:n.208+45C>T
XM_011513846.1:c.385+45C>T XP_011512148.1:n.385+45C>T
XM_011513847.1:c.355+45C>T XP_011512149.1:n.355+45C>T
XM_011513848.1:c.208+45C>T XP_011512150.1:n.208+45C>T
XM_011513846.2:c.385+45C>T XP_011512148.1:n.385+45C>T
XM_011513847.2:c.355+45C>T XP_011512149.1:n.355+45C>T
XM_017008277.1:c.643+45C>T XP_016863766.1:n.643+45C>T
XM_017008278.1:c.-36+45C>T XP_016863767.1:n.-36+45C>T
NM_016955.4:c.388+45C>T MANE Select NP_058651.3:n.388+45C>T