Canonical Allele Identifier: CA93585098

Gene: SEPSECS

Linked Data

• dbSNP Id: rs553905354
• gnomAD v2: 4-25158243-T-G
• gnomAD v3: 4-25156621-T-G
• gnomAD v4: 4-25156621-T-G
• MyVariant Identifiers: chr4:g.25158243T>G (hg19) ; chr4:g.25156621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25156621T>G , CM000666.2:g.25156621T>G	GRCh38
NC_000004.11:g.25158243T>G , CM000666.1:g.25158243T>G	GRCh37
NC_000004.10:g.24767341T>G	NCBI36
NG_028222.1:g.8962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.388+235A>C MANE Select	ENSP00000371535.2:n.388+235A>C
ENST00000680581.1:c.388+235A>C	ENSP00000506483.1:n.388+235A>C
ENST00000680824.1:n.1604+235A>C
ENST00000681071.1:n.680+235A>C
ENST00000681166.1:n.1435+235A>C
ENST00000681341.1:n.1529+235A>C
ENST00000681640.1:n.482+235A>C
ENST00000681948.1:c.643+235A>C	ENSP00000505991.1:n.643+235A>C
ENST00000358971.7:c.*186+235A>C	ENSP00000351857.3:n.*186+235A>C
ENST00000382103.6:c.388+235A>C	ENSP00000371535.2:n.388+235A>C
ENST00000514585.5:c.*89+235A>C	ENSP00000421880.1:n.*89+235A>C
NM_016955.3:c.388+235A>C	NP_058651.3:n.388+235A>C
XM_005248168.2:c.151+235A>C	XP_005248225.1:n.151+235A>C
XM_006713965.2:c.208+235A>C	XP_006714028.1:n.208+235A>C
XM_011513846.1:c.385+235A>C	XP_011512148.1:n.385+235A>C
XM_011513847.1:c.355+235A>C	XP_011512149.1:n.355+235A>C
XM_011513848.1:c.208+235A>C	XP_011512150.1:n.208+235A>C
XM_011513846.2:c.385+235A>C	XP_011512148.1:n.385+235A>C
XM_011513847.2:c.355+235A>C	XP_011512149.1:n.355+235A>C
XM_017008277.1:c.643+235A>C	XP_016863766.1:n.643+235A>C
XM_017008278.1:c.-36+235A>C	XP_016863767.1:n.-36+235A>C
NM_016955.4:c.388+235A>C MANE Select	NP_058651.3:n.388+235A>C