Canonical Allele Identifier: CA1060312108
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1728086981
gnomAD v3: 4-25120652-A-C
gnomAD v4: 4-25120652-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25120652A>C , CM000666.2:g.25120652A>C GRCh38
NC_000004.11:g.25122274A>C , CM000666.1:g.25122274A>C GRCh37
NC_000004.10:g.24731372A>C NCBI36
NG_028222.1:g.44931T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.*3279T>G MANE Select ENSP00000371535.2:n.*3279T>G
ENST00000680581.1:c.*3659T>G ENSP00000506483.1:n.*3659T>G
ENST00000680824.1:n.6001T>G
ENST00000681071.1:n.5077T>G
ENST00000681341.1:n.5832T>G
ENST00000681374.1:n.4141T>G
ENST00000681948.1:c.*3279T>G ENSP00000505991.1:n.*3279T>G
ENST00000382103.6:c.*3279T>G ENSP00000371535.2:n.*3279T>G
NM_016955.3:c.*3279T>G NP_058651.3:n.*3279T>G
XM_005248168.2:c.*3279T>G XP_005248225.1:n.*3279T>G
XM_006713965.2:c.*3279T>G XP_006714028.1:n.*3279T>G
XM_011513846.1:c.*3279T>G XP_011512148.1:n.*3279T>G
XM_011513847.1:c.*3279T>G XP_011512149.1:n.*3279T>G
XM_011513848.1:c.*3279T>G XP_011512150.1:n.*3279T>G
XM_011513846.2:c.*3279T>G XP_011512148.1:n.*3279T>G
XM_011513847.2:c.*3279T>G XP_011512149.1:n.*3279T>G
XM_017008277.1:c.*3279T>G XP_016863766.1:n.*3279T>G
XM_017008278.1:c.*3279T>G XP_016863767.1:n.*3279T>G
NM_016955.4:c.*3279T>G MANE Select NP_058651.3:n.*3279T>G