Canonical Allele Identifier: CA438732694

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1375987922
• gnomAD v2: 4-25158479-A-G
• gnomAD v4: 4-25156857-A-G
• MyVariant Identifiers: chr4:g.25158479A>G (hg19) ; chr4:g.25156857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156857A>G , CM000666.2:g.25156857A>G	GRCh38
NC_000004.11:g.25158479A>G , CM000666.1:g.25158479A>G	GRCh37
NC_000004.10:g.24767577A>G	NCBI36
NG_028222.1:g.8726T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.387T>C MANE Select	ENSP00000371535.2:p.Ala129=
ENST00000680581.1:c.387T>C	ENSP00000506483.1:p.Ala129=
ENST00000680824.1:n.1603T>C
ENST00000681071.1:n.679T>C
ENST00000681166.1:n.1434T>C
ENST00000681341.1:n.1528T>C
ENST00000681640.1:n.481T>C
ENST00000681948.1:c.642T>C	ENSP00000505991.1:p.Ala214=
ENST00000358971.7:c.*185T>C	ENSP00000351857.3:n.*185T>C
ENST00000382103.6:c.387T>C	ENSP00000371535.2:p.Ala129=
ENST00000514585.5:c.*88T>C	ENSP00000421880.1:n.*88T>C
NM_016955.3:c.387T>C	NP_058651.3:p.Ala129=
XM_005248168.2:c.150T>C	XP_005248225.1:p.Ala50=
XM_006713965.2:c.207T>C	XP_006714028.1:p.Ala69=
XM_011513846.1:c.384T>C	XP_011512148.1:p.Ala128=
XM_011513847.1:c.354T>C	XP_011512149.1:p.Ala118=
XM_011513848.1:c.207T>C	XP_011512150.1:p.Ala69=
XM_011513846.2:c.384T>C	XP_011512148.1:p.Ala128=
XM_011513847.2:c.354T>C	XP_011512149.1:p.Ala118=
XM_017008277.1:c.642T>C	XP_016863766.1:p.Ala214=
XM_017008278.1:c.-37T>C	XP_016863767.1:n.-37T>C
NM_016955.4:c.387T>C MANE Select	NP_058651.3:p.Ala129=