Canonical Allele Identifier: CA438732301

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144813-A-T
• MyVariant Identifiers: chr4:g.25146435A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144813A>T , CM000666.2:g.25144813A>T	GRCh38
NC_000004.11:g.25146435A>T , CM000666.1:g.25146435A>T	GRCh37
NC_000004.10:g.24755533A>T	NCBI36
NG_028222.1:g.20770T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.987T>A MANE Select	ENSP00000371535.2:p.Leu329=
ENST00000680581.1:c.987T>A	ENSP00000506483.1:p.Leu329=
ENST00000680824.1:n.2203T>A
ENST00000681071.1:n.1279T>A
ENST00000681341.1:n.2128T>A
ENST00000681948.1:c.1242T>A	ENSP00000505991.1:p.Leu414=
ENST00000358971.7:c.*785T>A	ENSP00000351857.3:n.*785T>A
ENST00000382103.6:c.987T>A	ENSP00000371535.2:p.Leu329=
ENST00000503150.1:c.269T>A
ENST00000505513.1:n.287T>A
ENST00000514585.5:c.*688T>A	ENSP00000421880.1:n.*688T>A
NM_016955.3:c.987T>A	NP_058651.3:p.Leu329=
XM_005248168.2:c.750T>A	XP_005248225.1:p.Leu250=
XM_006713965.2:c.807T>A	XP_006714028.1:p.Leu269=
XM_011513846.1:c.984T>A	XP_011512148.1:p.Leu328=
XM_011513847.1:c.954T>A	XP_011512149.1:p.Leu318=
XM_011513848.1:c.807T>A	XP_011512150.1:p.Leu269=
XM_011513846.2:c.984T>A	XP_011512148.1:p.Leu328=
XM_011513847.2:c.954T>A	XP_011512149.1:p.Leu318=
XM_017008277.1:c.1242T>A	XP_016863766.1:p.Leu414=
XM_017008278.1:c.564T>A	XP_016863767.1:p.Leu188=
NM_016955.4:c.987T>A MANE Select	NP_058651.3:p.Leu329=