Canonical Allele Identifier: CA1060328118
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs2109035446
gnomAD v3: 4-25156784-T-A
gnomAD v4: 4-25156784-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25156784T>A , CM000666.2:g.25156784T>A GRCh38
NC_000004.11:g.25158406T>A , CM000666.1:g.25158406T>A GRCh37
NC_000004.10:g.24767504T>A NCBI36
NG_028222.1:g.8799A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.388+72A>T MANE Select ENSP00000371535.2:n.388+72A>T
ENST00000680581.1:c.388+72A>T ENSP00000506483.1:n.388+72A>T
ENST00000680824.1:n.1604+72A>T
ENST00000681071.1:n.680+72A>T
ENST00000681166.1:n.1435+72A>T
ENST00000681341.1:n.1529+72A>T
ENST00000681640.1:n.482+72A>T
ENST00000681948.1:c.643+72A>T ENSP00000505991.1:n.643+72A>T
ENST00000358971.7:c.*186+72A>T ENSP00000351857.3:n.*186+72A>T
ENST00000382103.6:c.388+72A>T ENSP00000371535.2:n.388+72A>T
ENST00000514585.5:c.*89+72A>T ENSP00000421880.1:n.*89+72A>T
NM_016955.3:c.388+72A>T NP_058651.3:n.388+72A>T
XM_005248168.2:c.151+72A>T XP_005248225.1:n.151+72A>T
XM_006713965.2:c.208+72A>T XP_006714028.1:n.208+72A>T
XM_011513846.1:c.385+72A>T XP_011512148.1:n.385+72A>T
XM_011513847.1:c.355+72A>T XP_011512149.1:n.355+72A>T
XM_011513848.1:c.208+72A>T XP_011512150.1:n.208+72A>T
XM_011513846.2:c.385+72A>T XP_011512148.1:n.385+72A>T
XM_011513847.2:c.355+72A>T XP_011512149.1:n.355+72A>T
XM_017008277.1:c.643+72A>T XP_016863766.1:n.643+72A>T
XM_017008278.1:c.-36+72A>T XP_016863767.1:n.-36+72A>T
NM_016955.4:c.388+72A>T MANE Select NP_058651.3:n.388+72A>T