Canonical Allele Identifier: CA2877274
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs368169734
gnomAD v2: 4-25146349-A-G
gnomAD v3: 4-25144727-A-G
gnomAD v4: 4-25144727-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144727A>G , CM000666.2:g.25144727A>G GRCh38
NC_000004.11:g.25146349A>G , CM000666.1:g.25146349A>G GRCh37
NC_000004.10:g.24755447A>G NCBI36
NG_028222.1:g.20856T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.1026+47T>C MANE Select ENSP00000371535.2:n.1026+47T>C
ENST00000680581.1:c.1026+47T>C ENSP00000506483.1:n.1026+47T>C
ENST00000680824.1:n.2242+47T>C
ENST00000681071.1:n.1318+47T>C
ENST00000681341.1:n.2167+47T>C
ENST00000681948.1:c.1281+47T>C ENSP00000505991.1:n.1281+47T>C
ENST00000358971.7:c.*824+47T>C ENSP00000351857.3:n.*824+47T>C
ENST00000382103.6:c.1026+47T>C ENSP00000371535.2:n.1026+47T>C
ENST00000503150.1:c.308+47T>C
ENST00000505513.1:n.326+47T>C
ENST00000514585.5:c.*727+47T>C ENSP00000421880.1:n.*727+47T>C
NM_016955.3:c.1026+47T>C NP_058651.3:n.1026+47T>C
XM_005248168.2:c.789+47T>C XP_005248225.1:n.789+47T>C
XM_006713965.2:c.846+47T>C XP_006714028.1:n.846+47T>C
XM_011513846.1:c.1023+47T>C XP_011512148.1:n.1023+47T>C
XM_011513847.1:c.993+47T>C XP_011512149.1:n.993+47T>C
XM_011513848.1:c.846+47T>C XP_011512150.1:n.846+47T>C
XM_011513846.2:c.1023+47T>C XP_011512148.1:n.1023+47T>C
XM_011513847.2:c.993+47T>C XP_011512149.1:n.993+47T>C
XM_017008277.1:c.1281+47T>C XP_016863766.1:n.1281+47T>C
XM_017008278.1:c.603+47T>C XP_016863767.1:n.603+47T>C
NM_016955.4:c.1026+47T>C MANE Select NP_058651.3:n.1026+47T>C