Canonical Allele Identifier: CA438732329

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144849-T-G
• MyVariant Identifiers: chr4:g.25146471T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144849T>G , CM000666.2:g.25144849T>G	GRCh38
NC_000004.11:g.25146471T>G , CM000666.1:g.25146471T>G	GRCh37
NC_000004.10:g.24755569T>G	NCBI36
NG_028222.1:g.20734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.951A>C MANE Select	ENSP00000371535.2:p.Ser317=
ENST00000680581.1:c.951A>C	ENSP00000506483.1:p.Ser317=
ENST00000680824.1:n.2167A>C
ENST00000681071.1:n.1243A>C
ENST00000681341.1:n.2092A>C
ENST00000681948.1:c.1206A>C	ENSP00000505991.1:p.Ser402=
ENST00000358971.7:c.*749A>C	ENSP00000351857.3:n.*749A>C
ENST00000382103.6:c.951A>C	ENSP00000371535.2:p.Ser317=
ENST00000503150.1:c.233A>C
ENST00000505513.1:n.251A>C
ENST00000514585.5:c.*652A>C	ENSP00000421880.1:n.*652A>C
NM_016955.3:c.951A>C	NP_058651.3:p.Ser317=
XM_005248168.2:c.714A>C	XP_005248225.1:p.Ser238=
XM_006713965.2:c.771A>C	XP_006714028.1:p.Ser257=
XM_011513846.1:c.948A>C	XP_011512148.1:p.Ser316=
XM_011513847.1:c.918A>C	XP_011512149.1:p.Ser306=
XM_011513848.1:c.771A>C	XP_011512150.1:p.Ser257=
XM_011513846.2:c.948A>C	XP_011512148.1:p.Ser316=
XM_011513847.2:c.918A>C	XP_011512149.1:p.Ser306=
XM_017008277.1:c.1206A>C	XP_016863766.1:p.Ser402=
XM_017008278.1:c.528A>C	XP_016863767.1:p.Ser176=
NM_016955.4:c.951A>C MANE Select	NP_058651.3:p.Ser317=