Canonical Allele Identifier: CA438732317

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144834-G-A
• MyVariant Identifiers: chr4:g.25146456G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144834G>A , CM000666.2:g.25144834G>A	GRCh38
NC_000004.11:g.25146456G>A , CM000666.1:g.25146456G>A	GRCh37
NC_000004.10:g.24755554G>A	NCBI36
NG_028222.1:g.20749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.966C>T MANE Select	ENSP00000371535.2:p.Val322=
ENST00000680581.1:c.966C>T	ENSP00000506483.1:p.Val322=
ENST00000680824.1:n.2182C>T
ENST00000681071.1:n.1258C>T
ENST00000681341.1:n.2107C>T
ENST00000681948.1:c.1221C>T	ENSP00000505991.1:p.Val407=
ENST00000358971.7:c.*764C>T	ENSP00000351857.3:n.*764C>T
ENST00000382103.6:c.966C>T	ENSP00000371535.2:p.Val322=
ENST00000503150.1:c.248C>T
ENST00000505513.1:n.266C>T
ENST00000514585.5:c.*667C>T	ENSP00000421880.1:n.*667C>T
NM_016955.3:c.966C>T	NP_058651.3:p.Val322=
XM_005248168.2:c.729C>T	XP_005248225.1:p.Val243=
XM_006713965.2:c.786C>T	XP_006714028.1:p.Val262=
XM_011513846.1:c.963C>T	XP_011512148.1:p.Val321=
XM_011513847.1:c.933C>T	XP_011512149.1:p.Val311=
XM_011513848.1:c.786C>T	XP_011512150.1:p.Val262=
XM_011513846.2:c.963C>T	XP_011512148.1:p.Val321=
XM_011513847.2:c.933C>T	XP_011512149.1:p.Val311=
XM_017008277.1:c.1221C>T	XP_016863766.1:p.Val407=
XM_017008278.1:c.543C>T	XP_016863767.1:p.Val181=
NM_016955.4:c.966C>T MANE Select	NP_058651.3:p.Val322=