Canonical Allele Identifier: CA2877291

Gene: SEPSECS

Linked Data

• dbSNP Id: rs551551280
• ExAC: 4:25146475 G / A
• gnomAD v2: 4-25146475-G-A
• gnomAD v3: 4-25144853-G-A
• gnomAD v4: 4-25144853-G-A
• MyVariant Identifiers: chr4:g.25146475G>A (hg19) ; chr4:g.25144853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144853G>A , CM000666.2:g.25144853G>A	GRCh38
NC_000004.11:g.25146475G>A , CM000666.1:g.25146475G>A	GRCh37
NC_000004.10:g.24755573G>A	NCBI36
NG_028222.1:g.20730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.947C>T MANE Select	ENSP00000371535.2:p.Ala316Val
ENST00000680581.1:c.947C>T	ENSP00000506483.1:p.Ala316Val
ENST00000680824.1:n.2163C>T
ENST00000681071.1:n.1239C>T
ENST00000681341.1:n.2088C>T
ENST00000681948.1:c.1202C>T	ENSP00000505991.1:p.Ala401Val
ENST00000358971.7:c.*745C>T	ENSP00000351857.3:n.*745C>T
ENST00000382103.6:c.947C>T	ENSP00000371535.2:p.Ala316Val
ENST00000503150.1:c.229C>T
ENST00000505513.1:n.247C>T
ENST00000514585.5:c.*648C>T	ENSP00000421880.1:n.*648C>T
NM_016955.3:c.947C>T	NP_058651.3:p.Ala316Val
XM_005248168.2:c.710C>T	XP_005248225.1:p.Ala237Val
XM_006713965.2:c.767C>T	XP_006714028.1:p.Ala256Val
XM_011513846.1:c.944C>T	XP_011512148.1:p.Ala315Val
XM_011513847.1:c.914C>T	XP_011512149.1:p.Ala305Val
XM_011513848.1:c.767C>T	XP_011512150.1:p.Ala256Val
XM_011513846.2:c.944C>T	XP_011512148.1:p.Ala315Val
XM_011513847.2:c.914C>T	XP_011512149.1:p.Ala305Val
XM_017008277.1:c.1202C>T	XP_016863766.1:p.Ala401Val
XM_017008278.1:c.524C>T	XP_016863767.1:p.Ala175Val
NM_016955.4:c.947C>T MANE Select	NP_058651.3:p.Ala316Val