Canonical Allele Identifier: CA1060324104
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1553153
gnomAD v3: 4-25147343-T-A
gnomAD v4: 4-25147343-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25147343T>A , CM000666.2:g.25147343T>A GRCh38
NC_000004.11:g.25148965T>A , CM000666.1:g.25148965T>A GRCh37
NC_000004.10:g.24758063T>A NCBI36
NG_028222.1:g.18240A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.805-2210A>T MANE Select ENSP00000371535.2:n.805-2210A>T
ENST00000680581.1:c.805-2210A>T ENSP00000506483.1:n.805-2210A>T
ENST00000680824.1:n.2021-2210A>T
ENST00000681071.1:n.1097-2210A>T
ENST00000681341.1:n.1946-2210A>T
ENST00000681948.1:c.1060-2210A>T ENSP00000505991.1:n.1060-2210A>T
ENST00000358971.7:c.*603-2210A>T ENSP00000351857.3:n.*603-2210A>T
ENST00000382103.6:c.805-2210A>T ENSP00000371535.2:n.805-2210A>T
ENST00000503150.1:c.217-2478A>T
ENST00000505513.1:n.235-2478A>T
ENST00000514585.5:c.*506-2210A>T ENSP00000421880.1:n.*506-2210A>T
NM_016955.3:c.805-2210A>T NP_058651.3:n.805-2210A>T
XM_005248168.2:c.568-2210A>T XP_005248225.1:n.568-2210A>T
XM_006713965.2:c.625-2210A>T XP_006714028.1:n.625-2210A>T
XM_011513846.1:c.802-2210A>T XP_011512148.1:n.802-2210A>T
XM_011513847.1:c.772-2210A>T XP_011512149.1:n.772-2210A>T
XM_011513848.1:c.625-2210A>T XP_011512150.1:n.625-2210A>T
XM_011513846.2:c.802-2210A>T XP_011512148.1:n.802-2210A>T
XM_011513847.2:c.772-2210A>T XP_011512149.1:n.772-2210A>T
XM_017008277.1:c.1060-2210A>T XP_016863766.1:n.1060-2210A>T
XM_017008278.1:c.382-2210A>T XP_016863767.1:n.382-2210A>T
NM_016955.4:c.805-2210A>T MANE Select NP_058651.3:n.805-2210A>T