Canonical Allele Identifier: CA93607352
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs769145141
gnomAD v2: 4-25122176-T-G
gnomAD v3: 4-25120554-T-G
gnomAD v4: 4-25120554-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25120554T>G , CM000666.2:g.25120554T>G GRCh38
NC_000004.11:g.25122176T>G , CM000666.1:g.25122176T>G GRCh37
NC_000004.10:g.24731274T>G NCBI36
NG_028222.1:g.45029A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.*3377A>C MANE Select ENSP00000371535.2:n.*3377A>C
ENST00000680581.1:c.*3757A>C ENSP00000506483.1:n.*3757A>C
ENST00000680824.1:n.6099A>C
ENST00000681071.1:n.5175A>C
ENST00000681341.1:n.5930A>C
ENST00000681374.1:n.4239A>C
ENST00000681948.1:c.*3377A>C ENSP00000505991.1:n.*3377A>C
ENST00000382103.6:c.*3377A>C ENSP00000371535.2:n.*3377A>C
NM_016955.3:c.*3377A>C NP_058651.3:n.*3377A>C
XM_005248168.2:c.*3377A>C XP_005248225.1:n.*3377A>C
XM_006713965.2:c.*3377A>C XP_006714028.1:n.*3377A>C
XM_011513846.1:c.*3377A>C XP_011512148.1:n.*3377A>C
XM_011513847.1:c.*3377A>C XP_011512149.1:n.*3377A>C
XM_011513848.1:c.*3377A>C XP_011512150.1:n.*3377A>C
XM_011513846.2:c.*3377A>C XP_011512148.1:n.*3377A>C
XM_011513847.2:c.*3377A>C XP_011512149.1:n.*3377A>C
XM_017008277.1:c.*3377A>C XP_016863766.1:n.*3377A>C
XM_017008278.1:c.*3377A>C XP_016863767.1:n.*3377A>C
NM_016955.4:c.*3377A>C MANE Select NP_058651.3:n.*3377A>C