Canonical Allele Identifier: CA1060323232
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1373757050
gnomAD v3: 4-25144711-A-T
gnomAD v4: 4-25144711-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144711A>T , CM000666.2:g.25144711A>T GRCh38
NC_000004.11:g.25146333A>T , CM000666.1:g.25146333A>T GRCh37
NC_000004.10:g.24755431A>T NCBI36
NG_028222.1:g.20872T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.1026+63T>A MANE Select ENSP00000371535.2:n.1026+63T>A
ENST00000680581.1:c.1026+63T>A ENSP00000506483.1:n.1026+63T>A
ENST00000680824.1:n.2242+63T>A
ENST00000681071.1:n.1318+63T>A
ENST00000681341.1:n.2167+63T>A
ENST00000681948.1:c.1281+63T>A ENSP00000505991.1:n.1281+63T>A
ENST00000358971.7:c.*824+63T>A ENSP00000351857.3:n.*824+63T>A
ENST00000382103.6:c.1026+63T>A ENSP00000371535.2:n.1026+63T>A
ENST00000503150.1:c.308+63T>A
ENST00000505513.1:n.326+63T>A
ENST00000514585.5:c.*727+63T>A ENSP00000421880.1:n.*727+63T>A
NM_016955.3:c.1026+63T>A NP_058651.3:n.1026+63T>A
XM_005248168.2:c.789+63T>A XP_005248225.1:n.789+63T>A
XM_006713965.2:c.846+63T>A XP_006714028.1:n.846+63T>A
XM_011513846.1:c.1023+63T>A XP_011512148.1:n.1023+63T>A
XM_011513847.1:c.993+63T>A XP_011512149.1:n.993+63T>A
XM_011513848.1:c.846+63T>A XP_011512150.1:n.846+63T>A
XM_011513846.2:c.1023+63T>A XP_011512148.1:n.1023+63T>A
XM_011513847.2:c.993+63T>A XP_011512149.1:n.993+63T>A
XM_017008277.1:c.1281+63T>A XP_016863766.1:n.1281+63T>A
XM_017008278.1:c.603+63T>A XP_016863767.1:n.603+63T>A
NM_016955.4:c.1026+63T>A MANE Select NP_058651.3:n.1026+63T>A