Canonical Allele Identifier: CA356542556

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25158489A>G (hg19) ; chr4:g.25156867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156867A>G , CM000666.2:g.25156867A>G	GRCh38
NC_000004.11:g.25158489A>G , CM000666.1:g.25158489A>G	GRCh37
NC_000004.10:g.24767587A>G	NCBI36
NG_028222.1:g.8716T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.377T>C MANE Select	ENSP00000371535.2:p.Ile126Thr
ENST00000680581.1:c.377T>C	ENSP00000506483.1:p.Ile126Thr
ENST00000680824.1:n.1593T>C
ENST00000681071.1:n.669T>C
ENST00000681166.1:n.1424T>C
ENST00000681341.1:n.1518T>C
ENST00000681640.1:n.471T>C
ENST00000681948.1:c.632T>C	ENSP00000505991.1:p.Ile211Thr
ENST00000358971.7:c.*175T>C	ENSP00000351857.3:n.*175T>C
ENST00000382103.6:c.377T>C	ENSP00000371535.2:p.Ile126Thr
ENST00000514585.5:c.*78T>C	ENSP00000421880.1:n.*78T>C
NM_016955.3:c.377T>C	NP_058651.3:p.Ile126Thr
XM_005248168.2:c.140T>C	XP_005248225.1:p.Ile47Thr
XM_006713965.2:c.197T>C	XP_006714028.1:p.Ile66Thr
XM_011513846.1:c.374T>C	XP_011512148.1:p.Ile125Thr
XM_011513847.1:c.344T>C	XP_011512149.1:p.Ile115Thr
XM_011513848.1:c.197T>C	XP_011512150.1:p.Ile66Thr
XM_011513846.2:c.374T>C	XP_011512148.1:p.Ile125Thr
XM_011513847.2:c.344T>C	XP_011512149.1:p.Ile115Thr
XM_017008277.1:c.632T>C	XP_016863766.1:p.Ile211Thr
XM_017008278.1:c.-47T>C	XP_016863767.1:n.-47T>C
NM_016955.4:c.377T>C MANE Select	NP_058651.3:p.Ile126Thr