Canonical Allele Identifier: CA438732304
Gene: SEPSECS HGNC NCBI

Linked Data

gnomAD v4: 4-25144816-T-G
MyVariant Identifiers: chr4:g.25146438T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144816T>G , CM000666.2:g.25144816T>G GRCh38
NC_000004.11:g.25146438T>G , CM000666.1:g.25146438T>G GRCh37
NC_000004.10:g.24755536T>G NCBI36
NG_028222.1:g.20767A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.984A>C MANE Select ENSP00000371535.2:p.Ser328=
ENST00000680581.1:c.984A>C ENSP00000506483.1:p.Ser328=
ENST00000680824.1:n.2200A>C
ENST00000681071.1:n.1276A>C
ENST00000681341.1:n.2125A>C
ENST00000681948.1:c.1239A>C ENSP00000505991.1:p.Ser413=
ENST00000358971.7:c.*782A>C ENSP00000351857.3:n.*782A>C
ENST00000382103.6:c.984A>C ENSP00000371535.2:p.Ser328=
ENST00000503150.1:c.266A>C
ENST00000505513.1:n.284A>C
ENST00000514585.5:c.*685A>C ENSP00000421880.1:n.*685A>C
NM_016955.3:c.984A>C NP_058651.3:p.Ser328=
XM_005248168.2:c.747A>C XP_005248225.1:p.Ser249=
XM_006713965.2:c.804A>C XP_006714028.1:p.Ser268=
XM_011513846.1:c.981A>C XP_011512148.1:p.Ser327=
XM_011513847.1:c.951A>C XP_011512149.1:p.Ser317=
XM_011513848.1:c.804A>C XP_011512150.1:p.Ser268=
XM_011513846.2:c.981A>C XP_011512148.1:p.Ser327=
XM_011513847.2:c.951A>C XP_011512149.1:p.Ser317=
XM_017008277.1:c.1239A>C XP_016863766.1:p.Ser413=
XM_017008278.1:c.561A>C XP_016863767.1:p.Ser187=
NM_016955.4:c.984A>C MANE Select NP_058651.3:p.Ser328=