Canonical Allele Identifier: CA356536936

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144850-G-A
• MyVariant Identifiers: chr4:g.25146472G>A (hg19) ; chr4:g.25144850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144850G>A , CM000666.2:g.25144850G>A	GRCh38
NC_000004.11:g.25146472G>A , CM000666.1:g.25146472G>A	GRCh37
NC_000004.10:g.24755570G>A	NCBI36
NG_028222.1:g.20733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.950C>T MANE Select	ENSP00000371535.2:p.Ser317Leu
ENST00000680581.1:c.950C>T	ENSP00000506483.1:p.Ser317Leu
ENST00000680824.1:n.2166C>T
ENST00000681071.1:n.1242C>T
ENST00000681341.1:n.2091C>T
ENST00000681948.1:c.1205C>T	ENSP00000505991.1:p.Ser402Leu
ENST00000358971.7:c.*748C>T	ENSP00000351857.3:n.*748C>T
ENST00000382103.6:c.950C>T	ENSP00000371535.2:p.Ser317Leu
ENST00000503150.1:c.232C>T
ENST00000505513.1:n.250C>T
ENST00000514585.5:c.*651C>T	ENSP00000421880.1:n.*651C>T
NM_016955.3:c.950C>T	NP_058651.3:p.Ser317Leu
XM_005248168.2:c.713C>T	XP_005248225.1:p.Ser238Leu
XM_006713965.2:c.770C>T	XP_006714028.1:p.Ser257Leu
XM_011513846.1:c.947C>T	XP_011512148.1:p.Ser316Leu
XM_011513847.1:c.917C>T	XP_011512149.1:p.Ser306Leu
XM_011513848.1:c.770C>T	XP_011512150.1:p.Ser257Leu
XM_011513846.2:c.947C>T	XP_011512148.1:p.Ser316Leu
XM_011513847.2:c.917C>T	XP_011512149.1:p.Ser306Leu
XM_017008277.1:c.1205C>T	XP_016863766.1:p.Ser402Leu
XM_017008278.1:c.527C>T	XP_016863767.1:p.Ser176Leu
NM_016955.4:c.950C>T MANE Select	NP_058651.3:p.Ser317Leu