Canonical Allele Identifier: CA550289718

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1280936599
• gnomAD v2: 4-25158286-C-T
• gnomAD v3: 4-25156664-C-T
• gnomAD v4: 4-25156664-C-T
• MyVariant Identifiers: chr4:g.25158286C>T (hg19) ; chr4:g.25156664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156664C>T , CM000666.2:g.25156664C>T	GRCh38
NC_000004.11:g.25158286C>T , CM000666.1:g.25158286C>T	GRCh37
NC_000004.10:g.24767384C>T	NCBI36
NG_028222.1:g.8919G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.388+192G>A MANE Select	ENSP00000371535.2:n.388+192G>A
ENST00000680581.1:c.388+192G>A	ENSP00000506483.1:n.388+192G>A
ENST00000680824.1:n.1604+192G>A
ENST00000681071.1:n.680+192G>A
ENST00000681166.1:n.1435+192G>A
ENST00000681341.1:n.1529+192G>A
ENST00000681640.1:n.482+192G>A
ENST00000681948.1:c.643+192G>A	ENSP00000505991.1:n.643+192G>A
ENST00000358971.7:c.*186+192G>A	ENSP00000351857.3:n.*186+192G>A
ENST00000382103.6:c.388+192G>A	ENSP00000371535.2:n.388+192G>A
ENST00000514585.5:c.*89+192G>A	ENSP00000421880.1:n.*89+192G>A
NM_016955.3:c.388+192G>A	NP_058651.3:n.388+192G>A
XM_005248168.2:c.151+192G>A	XP_005248225.1:n.151+192G>A
XM_006713965.2:c.208+192G>A	XP_006714028.1:n.208+192G>A
XM_011513846.1:c.385+192G>A	XP_011512148.1:n.385+192G>A
XM_011513847.1:c.355+192G>A	XP_011512149.1:n.355+192G>A
XM_011513848.1:c.208+192G>A	XP_011512150.1:n.208+192G>A
XM_011513846.2:c.385+192G>A	XP_011512148.1:n.385+192G>A
XM_011513847.2:c.355+192G>A	XP_011512149.1:n.355+192G>A
XM_017008277.1:c.643+192G>A	XP_016863766.1:n.643+192G>A
XM_017008278.1:c.-36+192G>A	XP_016863767.1:n.-36+192G>A
NM_016955.4:c.388+192G>A MANE Select	NP_058651.3:n.388+192G>A