Canonical Allele Identifier: CA356542536

Gene: SEPSECS

Linked Data

• dbSNP Id: rs1712689738
• gnomAD v4: 4-25156858-G-A
• MyVariant Identifiers: chr4:g.25158480G>A (hg19) ; chr4:g.25156858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156858G>A , CM000666.2:g.25156858G>A	GRCh38
NC_000004.11:g.25158480G>A , CM000666.1:g.25158480G>A	GRCh37
NC_000004.10:g.24767578G>A	NCBI36
NG_028222.1:g.8725C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.386C>T MANE Select	ENSP00000371535.2:p.Ala129Val
ENST00000680581.1:c.386C>T	ENSP00000506483.1:p.Ala129Val
ENST00000680824.1:n.1602C>T
ENST00000681071.1:n.678C>T
ENST00000681166.1:n.1433C>T
ENST00000681341.1:n.1527C>T
ENST00000681640.1:n.480C>T
ENST00000681948.1:c.641C>T	ENSP00000505991.1:p.Ala214Val
ENST00000358971.7:c.*184C>T	ENSP00000351857.3:n.*184C>T
ENST00000382103.6:c.386C>T	ENSP00000371535.2:p.Ala129Val
ENST00000514585.5:c.*87C>T	ENSP00000421880.1:n.*87C>T
NM_016955.3:c.386C>T	NP_058651.3:p.Ala129Val
XM_005248168.2:c.149C>T	XP_005248225.1:p.Ala50Val
XM_006713965.2:c.206C>T	XP_006714028.1:p.Ala69Val
XM_011513846.1:c.383C>T	XP_011512148.1:p.Ala128Val
XM_011513847.1:c.353C>T	XP_011512149.1:p.Ala118Val
XM_011513848.1:c.206C>T	XP_011512150.1:p.Ala69Val
XM_011513846.2:c.383C>T	XP_011512148.1:p.Ala128Val
XM_011513847.2:c.353C>T	XP_011512149.1:p.Ala118Val
XM_017008277.1:c.641C>T	XP_016863766.1:p.Ala214Val
XM_017008278.1:c.-38C>T	XP_016863767.1:n.-38C>T
NM_016955.4:c.386C>T MANE Select	NP_058651.3:p.Ala129Val