Canonical Allele Identifier: CA356536748

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1198362990
• gnomAD v2: 4-25146424-C-T
• MyVariant Identifiers: chr4:g.25146424C>T (hg19) ; chr4:g.25144802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144802C>T , CM000666.2:g.25144802C>T	GRCh38
NC_000004.11:g.25146424C>T , CM000666.1:g.25146424C>T	GRCh37
NC_000004.10:g.24755522C>T	NCBI36
NG_028222.1:g.20781G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.998G>A MANE Select	ENSP00000371535.2:p.Gly333Asp
ENST00000680581.1:c.998G>A	ENSP00000506483.1:p.Gly333Asp
ENST00000680824.1:n.2214G>A
ENST00000681071.1:n.1290G>A
ENST00000681341.1:n.2139G>A
ENST00000681948.1:c.1253G>A	ENSP00000505991.1:p.Gly418Asp
ENST00000358971.7:c.*796G>A	ENSP00000351857.3:n.*796G>A
ENST00000382103.6:c.998G>A	ENSP00000371535.2:p.Gly333Asp
ENST00000503150.1:c.280G>A
ENST00000505513.1:n.298G>A
ENST00000514585.5:c.*699G>A	ENSP00000421880.1:n.*699G>A
NM_016955.3:c.998G>A	NP_058651.3:p.Gly333Asp
XM_005248168.2:c.761G>A	XP_005248225.1:p.Gly254Asp
XM_006713965.2:c.818G>A	XP_006714028.1:p.Gly273Asp
XM_011513846.1:c.995G>A	XP_011512148.1:p.Gly332Asp
XM_011513847.1:c.965G>A	XP_011512149.1:p.Gly322Asp
XM_011513848.1:c.818G>A	XP_011512150.1:p.Gly273Asp
XM_011513846.2:c.995G>A	XP_011512148.1:p.Gly332Asp
XM_011513847.2:c.965G>A	XP_011512149.1:p.Gly322Asp
XM_017008277.1:c.1253G>A	XP_016863766.1:p.Gly418Asp
XM_017008278.1:c.575G>A	XP_016863767.1:p.Gly192Asp
NM_016955.4:c.998G>A MANE Select	NP_058651.3:p.Gly333Asp