Canonical Allele Identifier: CA356536771

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 2835225
• ClinVar RCV Id: RCV003687039
• MyVariant Identifiers: chr4:g.25146430G>T (hg19) ; chr4:g.25144808G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144808G>T , CM000666.2:g.25144808G>T	GRCh38
NC_000004.11:g.25146430G>T , CM000666.1:g.25146430G>T	GRCh37
NC_000004.10:g.24755528G>T	NCBI36
NG_028222.1:g.20775C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.992C>A MANE Select	ENSP00000371535.2:p.Ser331Ter
ENST00000680581.1:c.992C>A	ENSP00000506483.1:p.Ser331Ter
ENST00000680824.1:n.2208C>A
ENST00000681071.1:n.1284C>A
ENST00000681341.1:n.2133C>A
ENST00000681948.1:c.1247C>A	ENSP00000505991.1:p.Ser416Ter
ENST00000358971.7:c.*790C>A	ENSP00000351857.3:n.*790C>A
ENST00000382103.6:c.992C>A	ENSP00000371535.2:p.Ser331Ter
ENST00000503150.1:c.274C>A
ENST00000505513.1:n.292C>A
ENST00000514585.5:c.*693C>A	ENSP00000421880.1:n.*693C>A
NM_016955.3:c.992C>A	NP_058651.3:p.Ser331Ter
XM_005248168.2:c.755C>A	XP_005248225.1:p.Ser252Ter
XM_006713965.2:c.812C>A	XP_006714028.1:p.Ser271Ter
XM_011513846.1:c.989C>A	XP_011512148.1:p.Ser330Ter
XM_011513847.1:c.959C>A	XP_011512149.1:p.Ser320Ter
XM_011513848.1:c.812C>A	XP_011512150.1:p.Ser271Ter
XM_011513846.2:c.989C>A	XP_011512148.1:p.Ser330Ter
XM_011513847.2:c.959C>A	XP_011512149.1:p.Ser320Ter
XM_017008277.1:c.1247C>A	XP_016863766.1:p.Ser416Ter
XM_017008278.1:c.569C>A	XP_016863767.1:p.Ser190Ter
NM_016955.4:c.992C>A MANE Select	NP_058651.3:p.Ser331Ter