Canonical Allele Identifier: CA356536958

Gene: SEPSECS

Linked Data

• gnomAD v4: 4-25144856-G-A
• MyVariant Identifiers: chr4:g.25146478G>A (hg19) ; chr4:g.25144856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144856G>A , CM000666.2:g.25144856G>A	GRCh38
NC_000004.11:g.25146478G>A , CM000666.1:g.25146478G>A	GRCh37
NC_000004.10:g.24755576G>A	NCBI36
NG_028222.1:g.20727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.944C>T MANE Select	ENSP00000371535.2:p.Ser315Leu
ENST00000680581.1:c.944C>T	ENSP00000506483.1:p.Ser315Leu
ENST00000680824.1:n.2160C>T
ENST00000681071.1:n.1236C>T
ENST00000681341.1:n.2085C>T
ENST00000681948.1:c.1199C>T	ENSP00000505991.1:p.Ser400Leu
ENST00000358971.7:c.*742C>T	ENSP00000351857.3:n.*742C>T
ENST00000382103.6:c.944C>T	ENSP00000371535.2:p.Ser315Leu
ENST00000503150.1:c.226C>T
ENST00000505513.1:n.244C>T
ENST00000514585.5:c.*645C>T	ENSP00000421880.1:n.*645C>T
NM_016955.3:c.944C>T	NP_058651.3:p.Ser315Leu
XM_005248168.2:c.707C>T	XP_005248225.1:p.Ser236Leu
XM_006713965.2:c.764C>T	XP_006714028.1:p.Ser255Leu
XM_011513846.1:c.941C>T	XP_011512148.1:p.Ser314Leu
XM_011513847.1:c.911C>T	XP_011512149.1:p.Ser304Leu
XM_011513848.1:c.764C>T	XP_011512150.1:p.Ser255Leu
XM_011513846.2:c.941C>T	XP_011512148.1:p.Ser314Leu
XM_011513847.2:c.911C>T	XP_011512149.1:p.Ser304Leu
XM_017008277.1:c.1199C>T	XP_016863766.1:p.Ser400Leu
XM_017008278.1:c.521C>T	XP_016863767.1:p.Ser174Leu
NM_016955.4:c.944C>T MANE Select	NP_058651.3:p.Ser315Leu