Canonical Allele Identifier: CA2670196476
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25144683-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144683C>G , CM000666.2:g.25144683C>G GRCh38
NC_000004.11:g.25146305C>G , CM000666.1:g.25146305C>G GRCh37
NC_000004.10:g.24755403C>G NCBI36
NG_028222.1:g.20900G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.1026+91G>C MANE Select ENSP00000371535.2:n.1026+91G>C
ENST00000680581.1:c.1026+91G>C ENSP00000506483.1:n.1026+91G>C
ENST00000680824.1:n.2242+91G>C
ENST00000681071.1:n.1318+91G>C
ENST00000681341.1:n.2167+91G>C
ENST00000681948.1:c.1281+91G>C ENSP00000505991.1:n.1281+91G>C
ENST00000358971.7:c.*824+91G>C ENSP00000351857.3:n.*824+91G>C
ENST00000382103.6:c.1026+91G>C ENSP00000371535.2:n.1026+91G>C
ENST00000503150.1:c.308+91G>C
ENST00000505513.1:n.326+91G>C
ENST00000514585.5:c.*727+91G>C ENSP00000421880.1:n.*727+91G>C
NM_016955.3:c.1026+91G>C NP_058651.3:n.1026+91G>C
XM_005248168.2:c.789+91G>C XP_005248225.1:n.789+91G>C
XM_006713965.2:c.846+91G>C XP_006714028.1:n.846+91G>C
XM_011513846.1:c.1023+91G>C XP_011512148.1:n.1023+91G>C
XM_011513847.1:c.993+91G>C XP_011512149.1:n.993+91G>C
XM_011513848.1:c.846+91G>C XP_011512150.1:n.846+91G>C
XM_011513846.2:c.1023+91G>C XP_011512148.1:n.1023+91G>C
XM_011513847.2:c.993+91G>C XP_011512149.1:n.993+91G>C
XM_017008277.1:c.1281+91G>C XP_016863766.1:n.1281+91G>C
XM_017008278.1:c.603+91G>C XP_016863767.1:n.603+91G>C
NM_016955.4:c.1026+91G>C MANE Select NP_058651.3:n.1026+91G>C