Canonical Allele Identifier: CA356536864

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144832-A-C
• MyVariant Identifiers: chr4:g.25146454A>C (hg19) ; chr4:g.25144832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144832A>C , CM000666.2:g.25144832A>C	GRCh38
NC_000004.11:g.25146454A>C , CM000666.1:g.25146454A>C	GRCh37
NC_000004.10:g.24755552A>C	NCBI36
NG_028222.1:g.20751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.968T>G MANE Select	ENSP00000371535.2:p.Leu323Arg
ENST00000680581.1:c.968T>G	ENSP00000506483.1:p.Leu323Arg
ENST00000680824.1:n.2184T>G
ENST00000681071.1:n.1260T>G
ENST00000681341.1:n.2109T>G
ENST00000681948.1:c.1223T>G	ENSP00000505991.1:p.Leu408Arg
ENST00000358971.7:c.*766T>G	ENSP00000351857.3:n.*766T>G
ENST00000382103.6:c.968T>G	ENSP00000371535.2:p.Leu323Arg
ENST00000503150.1:c.250T>G
ENST00000505513.1:n.268T>G
ENST00000514585.5:c.*669T>G	ENSP00000421880.1:n.*669T>G
NM_016955.3:c.968T>G	NP_058651.3:p.Leu323Arg
XM_005248168.2:c.731T>G	XP_005248225.1:p.Leu244Arg
XM_006713965.2:c.788T>G	XP_006714028.1:p.Leu263Arg
XM_011513846.1:c.965T>G	XP_011512148.1:p.Leu322Arg
XM_011513847.1:c.935T>G	XP_011512149.1:p.Leu312Arg
XM_011513848.1:c.788T>G	XP_011512150.1:p.Leu263Arg
XM_011513846.2:c.965T>G	XP_011512148.1:p.Leu322Arg
XM_011513847.2:c.935T>G	XP_011512149.1:p.Leu312Arg
XM_017008277.1:c.1223T>G	XP_016863766.1:p.Leu408Arg
XM_017008278.1:c.545T>G	XP_016863767.1:p.Leu182Arg
NM_016955.4:c.968T>G MANE Select	NP_058651.3:p.Leu323Arg