Canonical Allele Identifier: CA356536889

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 3160015
• ClinVar RCV Id: RCV004452917
• MyVariant Identifiers: chr4:g.25146459A>C (hg19) ; chr4:g.25144837A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144837A>C , CM000666.2:g.25144837A>C	GRCh38
NC_000004.11:g.25146459A>C , CM000666.1:g.25146459A>C	GRCh37
NC_000004.10:g.24755557A>C	NCBI36
NG_028222.1:g.20746T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.963T>G MANE Select	ENSP00000371535.2:p.Asp321Glu
ENST00000680581.1:c.963T>G	ENSP00000506483.1:p.Asp321Glu
ENST00000680824.1:n.2179T>G
ENST00000681071.1:n.1255T>G
ENST00000681341.1:n.2104T>G
ENST00000681948.1:c.1218T>G	ENSP00000505991.1:p.Asp406Glu
ENST00000358971.7:c.*761T>G	ENSP00000351857.3:n.*761T>G
ENST00000382103.6:c.963T>G	ENSP00000371535.2:p.Asp321Glu
ENST00000503150.1:c.245T>G
ENST00000505513.1:n.263T>G
ENST00000514585.5:c.*664T>G	ENSP00000421880.1:n.*664T>G
NM_016955.3:c.963T>G	NP_058651.3:p.Asp321Glu
XM_005248168.2:c.726T>G	XP_005248225.1:p.Asp242Glu
XM_006713965.2:c.783T>G	XP_006714028.1:p.Asp261Glu
XM_011513846.1:c.960T>G	XP_011512148.1:p.Asp320Glu
XM_011513847.1:c.930T>G	XP_011512149.1:p.Asp310Glu
XM_011513848.1:c.783T>G	XP_011512150.1:p.Asp261Glu
XM_011513846.2:c.960T>G	XP_011512148.1:p.Asp320Glu
XM_011513847.2:c.930T>G	XP_011512149.1:p.Asp310Glu
XM_017008277.1:c.1218T>G	XP_016863766.1:p.Asp406Glu
XM_017008278.1:c.540T>G	XP_016863767.1:p.Asp180Glu
NM_016955.4:c.963T>G MANE Select	NP_058651.3:p.Asp321Glu