Canonical Allele Identifier: CA1445224469
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1712018060

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25147305C>G , CM000666.2:g.25147305C>G GRCh38
NC_000004.11:g.25148927C>G , CM000666.1:g.25148927C>G GRCh37
NC_000004.10:g.24758025C>G NCBI36
NG_028222.1:g.18278G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.805-2172G>C MANE Select ENSP00000371535.2:n.805-2172G>C
ENST00000680581.1:c.805-2172G>C ENSP00000506483.1:n.805-2172G>C
ENST00000680824.1:n.2021-2172G>C
ENST00000681071.1:n.1097-2172G>C
ENST00000681341.1:n.1946-2172G>C
ENST00000681948.1:c.1060-2172G>C ENSP00000505991.1:n.1060-2172G>C
ENST00000358971.7:c.*603-2172G>C ENSP00000351857.3:n.*603-2172G>C
ENST00000382103.6:c.805-2172G>C ENSP00000371535.2:n.805-2172G>C
ENST00000503150.1:c.217-2440G>C
ENST00000505513.1:n.235-2440G>C
ENST00000514585.5:c.*506-2172G>C ENSP00000421880.1:n.*506-2172G>C
NM_016955.3:c.805-2172G>C NP_058651.3:n.805-2172G>C
XM_005248168.2:c.568-2172G>C XP_005248225.1:n.568-2172G>C
XM_006713965.2:c.625-2172G>C XP_006714028.1:n.625-2172G>C
XM_011513846.1:c.802-2172G>C XP_011512148.1:n.802-2172G>C
XM_011513847.1:c.772-2172G>C XP_011512149.1:n.772-2172G>C
XM_011513848.1:c.625-2172G>C XP_011512150.1:n.625-2172G>C
XM_011513846.2:c.802-2172G>C XP_011512148.1:n.802-2172G>C
XM_011513847.2:c.772-2172G>C XP_011512149.1:n.772-2172G>C
XM_017008277.1:c.1060-2172G>C XP_016863766.1:n.1060-2172G>C
XM_017008278.1:c.382-2172G>C XP_016863767.1:n.382-2172G>C
NM_016955.4:c.805-2172G>C MANE Select NP_058651.3:n.805-2172G>C