Canonical Allele Identifier: CA2670197292
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25156981-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156981A>G , CM000666.2:g.25156981A>G GRCh38
NC_000004.11:g.25158603A>G , CM000666.1:g.25158603A>G GRCh37
NC_000004.10:g.24767701A>G NCBI36
NG_028222.1:g.8602T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.270-7T>C MANE Select ENSP00000371535.2:n.270-7T>C
ENST00000680581.1:c.270-7T>C ENSP00000506483.1:n.270-7T>C
ENST00000680824.1:n.1486-7T>C
ENST00000681071.1:n.555T>C
ENST00000681166.1:n.1317-7T>C
ENST00000681341.1:n.1411-7T>C
ENST00000681640.1:n.364-7T>C
ENST00000681948.1:c.525-7T>C ENSP00000505991.1:n.525-7T>C
ENST00000358971.7:c.*68-7T>C ENSP00000351857.3:n.*68-7T>C
ENST00000382103.6:c.270-7T>C ENSP00000371535.2:n.270-7T>C
ENST00000514585.5:c.115-7T>C ENSP00000421880.1:n.115-7T>C
NM_016955.3:c.270-7T>C NP_058651.3:n.270-7T>C
XM_005248168.2:c.33-7T>C XP_005248225.1:n.33-7T>C
XM_006713965.2:c.90-7T>C XP_006714028.1:n.90-7T>C
XM_011513846.1:c.267-7T>C XP_011512148.1:n.267-7T>C
XM_011513847.1:c.237-7T>C XP_011512149.1:n.237-7T>C
XM_011513848.1:c.90-7T>C XP_011512150.1:n.90-7T>C
XM_011513846.2:c.267-7T>C XP_011512148.1:n.267-7T>C
XM_011513847.2:c.237-7T>C XP_011512149.1:n.237-7T>C
XM_017008277.1:c.525-7T>C XP_016863766.1:n.525-7T>C
XM_017008278.1:c.-161T>C XP_016863767.1:n.-161T>C
NM_016955.4:c.270-7T>C MANE Select NP_058651.3:n.270-7T>C