Canonical Allele Identifier: CA1060328022

Gene: SEPSECS

Linked Data

• dbSNP Id: rs569920722
• gnomAD v3: 4-25156736-G-T
• gnomAD v4: 4-25156736-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156736G>T , CM000666.2:g.25156736G>T	GRCh38
NC_000004.11:g.25158358G>T , CM000666.1:g.25158358G>T	GRCh37
NC_000004.10:g.24767456G>T	NCBI36
NG_028222.1:g.8847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+120C>A MANE Select	ENSP00000371535.2:n.388+120C>A
ENST00000680581.1:c.388+120C>A	ENSP00000506483.1:n.388+120C>A
ENST00000680824.1:n.1604+120C>A
ENST00000681071.1:n.680+120C>A
ENST00000681166.1:n.1435+120C>A
ENST00000681341.1:n.1529+120C>A
ENST00000681640.1:n.482+120C>A
ENST00000681948.1:c.643+120C>A	ENSP00000505991.1:n.643+120C>A
ENST00000358971.7:c.*186+120C>A	ENSP00000351857.3:n.*186+120C>A
ENST00000382103.6:c.388+120C>A	ENSP00000371535.2:n.388+120C>A
ENST00000514585.5:c.*89+120C>A	ENSP00000421880.1:n.*89+120C>A
NM_016955.3:c.388+120C>A	NP_058651.3:n.388+120C>A
XM_005248168.2:c.151+120C>A	XP_005248225.1:n.151+120C>A
XM_006713965.2:c.208+120C>A	XP_006714028.1:n.208+120C>A
XM_011513846.1:c.385+120C>A	XP_011512148.1:n.385+120C>A
XM_011513847.1:c.355+120C>A	XP_011512149.1:n.355+120C>A
XM_011513848.1:c.208+120C>A	XP_011512150.1:n.208+120C>A
XM_011513846.2:c.385+120C>A	XP_011512148.1:n.385+120C>A
XM_011513847.2:c.355+120C>A	XP_011512149.1:n.355+120C>A
XM_017008277.1:c.643+120C>A	XP_016863766.1:n.643+120C>A
XM_017008278.1:c.-36+120C>A	XP_016863767.1:n.-36+120C>A
NM_016955.4:c.388+120C>A MANE Select	NP_058651.3:n.388+120C>A