Canonical Allele Identifier: CA438732275

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1313846300
• gnomAD v3: 4-25144774-C-T
• gnomAD v4: 4-25144774-C-T
• MyVariant Identifiers: chr4:g.25146396C>T (hg19) ; chr4:g.25144774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144774C>T , CM000666.2:g.25144774C>T	GRCh38
NC_000004.11:g.25146396C>T , CM000666.1:g.25146396C>T	GRCh37
NC_000004.10:g.24755494C>T	NCBI36
NG_028222.1:g.20809G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.1026G>A MANE Select	ENSP00000371535.2:p.Lys342=
ENST00000680581.1:c.1026G>A	ENSP00000506483.1:p.Lys342=
ENST00000680824.1:n.2242G>A
ENST00000681071.1:n.1318G>A
ENST00000681341.1:n.2167G>A
ENST00000681948.1:c.1281G>A	ENSP00000505991.1:p.Lys427=
ENST00000358971.7:c.*824G>A	ENSP00000351857.3:n.*824G>A
ENST00000382103.6:c.1026G>A	ENSP00000371535.2:p.Lys342=
ENST00000503150.1:c.308G>A
ENST00000505513.1:n.326G>A
ENST00000514585.5:c.*727G>A	ENSP00000421880.1:n.*727G>A
NM_016955.3:c.1026G>A	NP_058651.3:p.Lys342=
XM_005248168.2:c.789G>A	XP_005248225.1:p.Lys263=
XM_006713965.2:c.846G>A	XP_006714028.1:p.Lys282=
XM_011513846.1:c.1023G>A	XP_011512148.1:p.Lys341=
XM_011513847.1:c.993G>A	XP_011512149.1:p.Lys331=
XM_011513848.1:c.846G>A	XP_011512150.1:p.Lys282=
XM_011513846.2:c.1023G>A	XP_011512148.1:p.Lys341=
XM_011513847.2:c.993G>A	XP_011512149.1:p.Lys331=
XM_017008277.1:c.1281G>A	XP_016863766.1:p.Lys427=
XM_017008278.1:c.603G>A	XP_016863767.1:p.Lys201=
NM_016955.4:c.1026G>A MANE Select	NP_058651.3:p.Lys342=