Canonical Allele Identifier: CA2877288

Gene: SEPSECS

Linked Data

• dbSNP Id: rs778727132
• ExAC: 4:25146434 C / G
• gnomAD v2: 4-25146434-C-G
• gnomAD v4: 4-25144812-C-G
• MyVariant Identifiers: chr4:g.25146434C>G (hg19) ; chr4:g.25144812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144812C>G , CM000666.2:g.25144812C>G	GRCh38
NC_000004.11:g.25146434C>G , CM000666.1:g.25146434C>G	GRCh37
NC_000004.10:g.24755532C>G	NCBI36
NG_028222.1:g.20771G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.988G>C MANE Select	ENSP00000371535.2:p.Gly330Arg
ENST00000680581.1:c.988G>C	ENSP00000506483.1:p.Gly330Arg
ENST00000680824.1:n.2204G>C
ENST00000681071.1:n.1280G>C
ENST00000681341.1:n.2129G>C
ENST00000681948.1:c.1243G>C	ENSP00000505991.1:p.Gly415Arg
ENST00000358971.7:c.*786G>C	ENSP00000351857.3:n.*786G>C
ENST00000382103.6:c.988G>C	ENSP00000371535.2:p.Gly330Arg
ENST00000503150.1:c.270G>C
ENST00000505513.1:n.288G>C
ENST00000514585.5:c.*689G>C	ENSP00000421880.1:n.*689G>C
NM_016955.3:c.988G>C	NP_058651.3:p.Gly330Arg
XM_005248168.2:c.751G>C	XP_005248225.1:p.Gly251Arg
XM_006713965.2:c.808G>C	XP_006714028.1:p.Gly270Arg
XM_011513846.1:c.985G>C	XP_011512148.1:p.Gly329Arg
XM_011513847.1:c.955G>C	XP_011512149.1:p.Gly319Arg
XM_011513848.1:c.808G>C	XP_011512150.1:p.Gly270Arg
XM_011513846.2:c.985G>C	XP_011512148.1:p.Gly329Arg
XM_011513847.2:c.955G>C	XP_011512149.1:p.Gly319Arg
XM_017008277.1:c.1243G>C	XP_016863766.1:p.Gly415Arg
XM_017008278.1:c.565G>C	XP_016863767.1:p.Gly189Arg
NM_016955.4:c.988G>C MANE Select	NP_058651.3:p.Gly330Arg