Canonical Allele Identifier: CA93576065

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 1089628
• ClinVar RCV Id: RCV001408496
• dbSNP Id: rs987640895
• MyVariant Identifiers: chr4:g.25146447A>C (hg19) ; chr4:g.25144825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144825A>C , CM000666.2:g.25144825A>C	GRCh38
NC_000004.11:g.25146447A>C , CM000666.1:g.25146447A>C	GRCh37
NC_000004.10:g.24755545A>C	NCBI36
NG_028222.1:g.20758T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.975T>G MANE Select	ENSP00000371535.2:p.Thr325=
ENST00000680581.1:c.975T>G	ENSP00000506483.1:p.Thr325=
ENST00000680824.1:n.2191T>G
ENST00000681071.1:n.1267T>G
ENST00000681341.1:n.2116T>G
ENST00000681948.1:c.1230T>G	ENSP00000505991.1:p.Thr410=
ENST00000358971.7:c.*773T>G	ENSP00000351857.3:n.*773T>G
ENST00000382103.6:c.975T>G	ENSP00000371535.2:p.Thr325=
ENST00000503150.1:c.257T>G
ENST00000505513.1:n.275T>G
ENST00000514585.5:c.*676T>G	ENSP00000421880.1:n.*676T>G
NM_016955.3:c.975T>G	NP_058651.3:p.Thr325=
XM_005248168.2:c.738T>G	XP_005248225.1:p.Thr246=
XM_006713965.2:c.795T>G	XP_006714028.1:p.Thr265=
XM_011513846.1:c.972T>G	XP_011512148.1:p.Thr324=
XM_011513847.1:c.942T>G	XP_011512149.1:p.Thr314=
XM_011513848.1:c.795T>G	XP_011512150.1:p.Thr265=
XM_011513846.2:c.972T>G	XP_011512148.1:p.Thr324=
XM_011513847.2:c.942T>G	XP_011512149.1:p.Thr314=
XM_017008277.1:c.1230T>G	XP_016863766.1:p.Thr410=
XM_017008278.1:c.552T>G	XP_016863767.1:p.Thr184=
NM_016955.4:c.975T>G MANE Select	NP_058651.3:p.Thr325=