Canonical Allele Identifier: CA356536868

Gene: SEPSECS

Linked Data

• MyVariant Identifiers: chr4:g.25146454A>T (hg19) ; chr4:g.25144832A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.968T>A MANE Select	ENSP00000371535.2:p.Leu323His
ENST00000680581.1:c.968T>A	ENSP00000506483.1:p.Leu323His
ENST00000680824.1:n.2184T>A
ENST00000681071.1:n.1260T>A
ENST00000681341.1:n.2109T>A
ENST00000681948.1:c.1223T>A	ENSP00000505991.1:p.Leu408His
ENST00000358971.7:c.*766T>A	ENSP00000351857.3:n.*766T>A
ENST00000382103.6:c.968T>A	ENSP00000371535.2:p.Leu323His
ENST00000503150.1:c.250T>A
ENST00000505513.1:n.268T>A
ENST00000514585.5:c.*669T>A	ENSP00000421880.1:n.*669T>A
NM_016955.3:c.968T>A	NP_058651.3:p.Leu323His
XM_005248168.2:c.731T>A	XP_005248225.1:p.Leu244His
XM_006713965.2:c.788T>A	XP_006714028.1:p.Leu263His
XM_011513846.1:c.965T>A	XP_011512148.1:p.Leu322His
XM_011513847.1:c.935T>A	XP_011512149.1:p.Leu312His
XM_011513848.1:c.788T>A	XP_011512150.1:p.Leu263His
XM_011513846.2:c.965T>A	XP_011512148.1:p.Leu322His
XM_011513847.2:c.935T>A	XP_011512149.1:p.Leu312His
XM_017008277.1:c.1223T>A	XP_016863766.1:p.Leu408His
XM_017008278.1:c.545T>A	XP_016863767.1:p.Leu182His
NM_016955.4:c.968T>A MANE Select	NP_058651.3:p.Leu323His