Canonical Allele Identifier: CA356536930

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144848-G-A
• MyVariant Identifiers: chr4:g.25146470G>A (hg19) ; chr4:g.25144848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144848G>A , CM000666.2:g.25144848G>A	GRCh38
NC_000004.11:g.25146470G>A , CM000666.1:g.25146470G>A	GRCh37
NC_000004.10:g.24755568G>A	NCBI36
NG_028222.1:g.20735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.952C>T MANE Select	ENSP00000371535.2:p.Pro318Ser
ENST00000680581.1:c.952C>T	ENSP00000506483.1:p.Pro318Ser
ENST00000680824.1:n.2168C>T
ENST00000681071.1:n.1244C>T
ENST00000681341.1:n.2093C>T
ENST00000681948.1:c.1207C>T	ENSP00000505991.1:p.Pro403Ser
ENST00000358971.7:c.*750C>T	ENSP00000351857.3:n.*750C>T
ENST00000382103.6:c.952C>T	ENSP00000371535.2:p.Pro318Ser
ENST00000503150.1:c.234C>T
ENST00000505513.1:n.252C>T
ENST00000514585.5:c.*653C>T	ENSP00000421880.1:n.*653C>T
NM_016955.3:c.952C>T	NP_058651.3:p.Pro318Ser
XM_005248168.2:c.715C>T	XP_005248225.1:p.Pro239Ser
XM_006713965.2:c.772C>T	XP_006714028.1:p.Pro258Ser
XM_011513846.1:c.949C>T	XP_011512148.1:p.Pro317Ser
XM_011513847.1:c.919C>T	XP_011512149.1:p.Pro307Ser
XM_011513848.1:c.772C>T	XP_011512150.1:p.Pro258Ser
XM_011513846.2:c.949C>T	XP_011512148.1:p.Pro317Ser
XM_011513847.2:c.919C>T	XP_011512149.1:p.Pro307Ser
XM_017008277.1:c.1207C>T	XP_016863766.1:p.Pro403Ser
XM_017008278.1:c.529C>T	XP_016863767.1:p.Pro177Ser
NM_016955.4:c.952C>T MANE Select	NP_058651.3:p.Pro318Ser