Canonical Allele Identifier: CA356536618

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144776-T-C
• MyVariant Identifiers: chr4:g.25146398T>C (hg19) ; chr4:g.25144776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144776T>C , CM000666.2:g.25144776T>C	GRCh38
NC_000004.11:g.25146398T>C , CM000666.1:g.25146398T>C	GRCh37
NC_000004.10:g.24755496T>C	NCBI36
NG_028222.1:g.20807A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.1024A>G MANE Select	ENSP00000371535.2:p.Lys342Glu
ENST00000680581.1:c.1024A>G	ENSP00000506483.1:p.Lys342Glu
ENST00000680824.1:n.2240A>G
ENST00000681071.1:n.1316A>G
ENST00000681341.1:n.2165A>G
ENST00000681948.1:c.1279A>G	ENSP00000505991.1:p.Lys427Glu
ENST00000358971.7:c.*822A>G	ENSP00000351857.3:n.*822A>G
ENST00000382103.6:c.1024A>G	ENSP00000371535.2:p.Lys342Glu
ENST00000503150.1:c.306A>G
ENST00000505513.1:n.324A>G
ENST00000514585.5:c.*725A>G	ENSP00000421880.1:n.*725A>G
NM_016955.3:c.1024A>G	NP_058651.3:p.Lys342Glu
XM_005248168.2:c.787A>G	XP_005248225.1:p.Lys263Glu
XM_006713965.2:c.844A>G	XP_006714028.1:p.Lys282Glu
XM_011513846.1:c.1021A>G	XP_011512148.1:p.Lys341Glu
XM_011513847.1:c.991A>G	XP_011512149.1:p.Lys331Glu
XM_011513848.1:c.844A>G	XP_011512150.1:p.Lys282Glu
XM_011513846.2:c.1021A>G	XP_011512148.1:p.Lys341Glu
XM_011513847.2:c.991A>G	XP_011512149.1:p.Lys331Glu
XM_017008277.1:c.1279A>G	XP_016863766.1:p.Lys427Glu
XM_017008278.1:c.601A>G	XP_016863767.1:p.Lys201Glu
NM_016955.4:c.1024A>G MANE Select	NP_058651.3:p.Lys342Glu