Canonical Allele Identifier: CA356542581

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25156879-A-G
• MyVariant Identifiers: chr4:g.25158501A>G (hg19) ; chr4:g.25156879A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156879A>G , CM000666.2:g.25156879A>G	GRCh38
NC_000004.11:g.25158501A>G , CM000666.1:g.25158501A>G	GRCh37
NC_000004.10:g.24767599A>G	NCBI36
NG_028222.1:g.8704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.365T>C MANE Select	ENSP00000371535.2:p.Val122Ala
ENST00000680581.1:c.365T>C	ENSP00000506483.1:p.Val122Ala
ENST00000680824.1:n.1581T>C
ENST00000681071.1:n.657T>C
ENST00000681166.1:n.1412T>C
ENST00000681341.1:n.1506T>C
ENST00000681640.1:n.459T>C
ENST00000681948.1:c.620T>C	ENSP00000505991.1:p.Val207Ala
ENST00000358971.7:c.*163T>C	ENSP00000351857.3:n.*163T>C
ENST00000382103.6:c.365T>C	ENSP00000371535.2:p.Val122Ala
ENST00000514585.5:c.*66T>C	ENSP00000421880.1:n.*66T>C
NM_016955.3:c.365T>C	NP_058651.3:p.Val122Ala
XM_005248168.2:c.128T>C	XP_005248225.1:p.Val43Ala
XM_006713965.2:c.185T>C	XP_006714028.1:p.Val62Ala
XM_011513846.1:c.362T>C	XP_011512148.1:p.Val121Ala
XM_011513847.1:c.332T>C	XP_011512149.1:p.Val111Ala
XM_011513848.1:c.185T>C	XP_011512150.1:p.Val62Ala
XM_011513846.2:c.362T>C	XP_011512148.1:p.Val121Ala
XM_011513847.2:c.332T>C	XP_011512149.1:p.Val111Ala
XM_017008277.1:c.620T>C	XP_016863766.1:p.Val207Ala
XM_017008278.1:c.-59T>C	XP_016863767.1:n.-59T>C
NM_016955.4:c.365T>C MANE Select	NP_058651.3:p.Val122Ala