Canonical Allele Identifier: CA2697557099

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2767016
• ClinVar RCV Id: RCV003580566

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156836A>G , CM000666.2:g.25156836A>G	GRCh38
NC_000004.11:g.25158458A>G , CM000666.1:g.25158458A>G	GRCh37
NC_000004.10:g.24767556A>G	NCBI36
NG_028222.1:g.8747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+20T>C MANE Select	ENSP00000371535.2:n.388+20T>C
ENST00000680581.1:c.388+20T>C	ENSP00000506483.1:n.388+20T>C
ENST00000680824.1:n.1604+20T>C
ENST00000681071.1:n.680+20T>C
ENST00000681166.1:n.1435+20T>C
ENST00000681341.1:n.1529+20T>C
ENST00000681640.1:n.482+20T>C
ENST00000681948.1:c.643+20T>C	ENSP00000505991.1:n.643+20T>C
ENST00000358971.7:c.*186+20T>C	ENSP00000351857.3:n.*186+20T>C
ENST00000382103.6:c.388+20T>C	ENSP00000371535.2:n.388+20T>C
ENST00000514585.5:c.*89+20T>C	ENSP00000421880.1:n.*89+20T>C
NM_016955.3:c.388+20T>C	NP_058651.3:n.388+20T>C
XM_005248168.2:c.151+20T>C	XP_005248225.1:n.151+20T>C
XM_006713965.2:c.208+20T>C	XP_006714028.1:n.208+20T>C
XM_011513846.1:c.385+20T>C	XP_011512148.1:n.385+20T>C
XM_011513847.1:c.355+20T>C	XP_011512149.1:n.355+20T>C
XM_011513848.1:c.208+20T>C	XP_011512150.1:n.208+20T>C
XM_011513846.2:c.385+20T>C	XP_011512148.1:n.385+20T>C
XM_011513847.2:c.355+20T>C	XP_011512149.1:n.355+20T>C
XM_017008277.1:c.643+20T>C	XP_016863766.1:n.643+20T>C
XM_017008278.1:c.-36+20T>C	XP_016863767.1:n.-36+20T>C
NM_016955.4:c.388+20T>C MANE Select	NP_058651.3:n.388+20T>C