Canonical Allele Identifier: CA2877275

Gene: SEPSECS

Linked Data

• dbSNP Id: rs371106400
• ExAC: 4:25146351 A / G
• gnomAD v2: 4-25146351-A-G
• gnomAD v3: 4-25144729-A-G
• gnomAD v4: 4-25144729-A-G
• MyVariant Identifiers: chr4:g.25146351A>G (hg19) ; chr4:g.25144729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25144729A>G , CM000666.2:g.25144729A>G	GRCh38
NC_000004.11:g.25146351A>G , CM000666.1:g.25146351A>G	GRCh37
NC_000004.10:g.24755449A>G	NCBI36
NG_028222.1:g.20854T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382103.7:c.1026+45T>C MANE Select	ENSP00000371535.2:n.1026+45T>C
ENST00000680581.1:c.1026+45T>C	ENSP00000506483.1:n.1026+45T>C
ENST00000680824.1:n.2242+45T>C
ENST00000681071.1:n.1318+45T>C
ENST00000681341.1:n.2167+45T>C
ENST00000681948.1:c.1281+45T>C	ENSP00000505991.1:n.1281+45T>C
ENST00000358971.7:c.*824+45T>C	ENSP00000351857.3:n.*824+45T>C
ENST00000382103.6:c.1026+45T>C	ENSP00000371535.2:n.1026+45T>C
ENST00000503150.1:c.308+45T>C
ENST00000505513.1:n.326+45T>C
ENST00000514585.5:c.*727+45T>C	ENSP00000421880.1:n.*727+45T>C
NM_016955.3:c.1026+45T>C	NP_058651.3:n.1026+45T>C
XM_005248168.2:c.789+45T>C	XP_005248225.1:n.789+45T>C
XM_006713965.2:c.846+45T>C	XP_006714028.1:n.846+45T>C
XM_011513846.1:c.1023+45T>C	XP_011512148.1:n.1023+45T>C
XM_011513847.1:c.993+45T>C	XP_011512149.1:n.993+45T>C
XM_011513848.1:c.846+45T>C	XP_011512150.1:n.846+45T>C
XM_011513846.2:c.1023+45T>C	XP_011512148.1:n.1023+45T>C
XM_011513847.2:c.993+45T>C	XP_011512149.1:n.993+45T>C
XM_017008277.1:c.1281+45T>C	XP_016863766.1:n.1281+45T>C
XM_017008278.1:c.603+45T>C	XP_016863767.1:n.603+45T>C
NM_016955.4:c.1026+45T>C MANE Select	NP_058651.3:n.1026+45T>C