Canonical Allele Identifier: CA438732284
Gene: SEPSECS HGNC NCBI

Linked Data

dbSNP Id: rs1711857597
MyVariant Identifiers: chr4:g.25146411T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144789T>C , CM000666.2:g.25144789T>C GRCh38
NC_000004.11:g.25146411T>C , CM000666.1:g.25146411T>C GRCh37
NC_000004.10:g.24755509T>C NCBI36
NG_028222.1:g.20794A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382103.7:c.1011A>G MANE Select ENSP00000371535.2:p.Leu337=
ENST00000680581.1:c.1011A>G ENSP00000506483.1:p.Leu337=
ENST00000680824.1:n.2227A>G
ENST00000681071.1:n.1303A>G
ENST00000681341.1:n.2152A>G
ENST00000681948.1:c.1266A>G ENSP00000505991.1:p.Leu422=
ENST00000358971.7:c.*809A>G ENSP00000351857.3:n.*809A>G
ENST00000382103.6:c.1011A>G ENSP00000371535.2:p.Leu337=
ENST00000503150.1:c.293A>G
ENST00000505513.1:n.311A>G
ENST00000514585.5:c.*712A>G ENSP00000421880.1:n.*712A>G
NM_016955.3:c.1011A>G NP_058651.3:p.Leu337=
XM_005248168.2:c.774A>G XP_005248225.1:p.Leu258=
XM_006713965.2:c.831A>G XP_006714028.1:p.Leu277=
XM_011513846.1:c.1008A>G XP_011512148.1:p.Leu336=
XM_011513847.1:c.978A>G XP_011512149.1:p.Leu326=
XM_011513848.1:c.831A>G XP_011512150.1:p.Leu277=
XM_011513846.2:c.1008A>G XP_011512148.1:p.Leu336=
XM_011513847.2:c.978A>G XP_011512149.1:p.Leu326=
XM_017008277.1:c.1266A>G XP_016863766.1:p.Leu422=
XM_017008278.1:c.588A>G XP_016863767.1:p.Leu196=
NM_016955.4:c.1011A>G MANE Select NP_058651.3:p.Leu337=