Canonical Allele Identifier: CA93585627

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 1148044
• ClinVar RCV Id: RCV001487768
• dbSNP Id: rs550873678
• MyVariant Identifiers: chr4:g.25158587A>G (hg19) ; chr4:g.25156965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156965A>G , CM000666.2:g.25156965A>G	GRCh38
NC_000004.11:g.25158587A>G , CM000666.1:g.25158587A>G	GRCh37
NC_000004.10:g.24767685A>G	NCBI36
NG_028222.1:g.8618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.279T>C MANE Select	ENSP00000371535.2:p.His93=
ENST00000680581.1:c.279T>C	ENSP00000506483.1:p.His93=
ENST00000680824.1:n.1495T>C
ENST00000681071.1:n.571T>C
ENST00000681166.1:n.1326T>C
ENST00000681341.1:n.1420T>C
ENST00000681640.1:n.373T>C
ENST00000681948.1:c.534T>C	ENSP00000505991.1:p.His178=
ENST00000358971.7:c.*77T>C	ENSP00000351857.3:n.*77T>C
ENST00000382103.6:c.279T>C	ENSP00000371535.2:p.His93=
ENST00000514585.5:c.124T>C	ENSP00000421880.1:p.Trp42Arg
NM_016955.3:c.279T>C	NP_058651.3:p.His93=
XM_005248168.2:c.42T>C	XP_005248225.1:p.His14=
XM_006713965.2:c.99T>C	XP_006714028.1:p.His33=
XM_011513846.1:c.276T>C	XP_011512148.1:p.His92=
XM_011513847.1:c.246T>C	XP_011512149.1:p.His82=
XM_011513848.1:c.99T>C	XP_011512150.1:p.His33=
XM_011513846.2:c.276T>C	XP_011512148.1:p.His92=
XM_011513847.2:c.246T>C	XP_011512149.1:p.His82=
XM_017008277.1:c.534T>C	XP_016863766.1:p.His178=
XM_017008278.1:c.-145T>C	XP_016863767.1:n.-145T>C
NM_016955.4:c.279T>C MANE Select	NP_058651.3:p.His93=