Canonical Allele Identifier: CA114252
Gene: SEPSECS HGNC NCBI

Linked Data

ClinVar Variation Id: 18400
ClinVar RCV Id: RCV000000436 RCV001380416
dbSNP Id: rs267607036
gnomAD v4: 4-25144799-T-C
MyVariant Identifiers: chr4:g.25146421T>C (hg19) chr4:g.25144799T>C (hg38)
PubMed: PMID:12920088 PMID:20920667
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25144799T>C , CM000666.2:g.25144799T>C GRCh38
NC_000004.11:g.25146421T>C , CM000666.1:g.25146421T>C GRCh37
NC_000004.10:g.24755519T>C NCBI36
NG_028222.1:g.20784A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382103.7:c.1001A>G MANE Select ENSP00000371535.2:p.Tyr334Cys
ENST00000680581.1:c.1001A>G ENSP00000506483.1:p.Tyr334Cys
ENST00000680824.1:n.2217A>G
ENST00000681071.1:n.1293A>G
ENST00000681341.1:n.2142A>G
ENST00000681948.1:c.1256A>G ENSP00000505991.1:p.Tyr419Cys
ENST00000358971.7:c.*799A>G ENSP00000351857.3:n.*799A>G
ENST00000382103.6:c.1001A>G ENSP00000371535.2:p.Tyr334Cys
ENST00000503150.1:c.283A>G
ENST00000505513.1:n.301A>G
ENST00000514585.5:c.*702A>G ENSP00000421880.1:n.*702A>G
NM_016955.3:c.1001A>G NP_058651.3:p.Tyr334Cys
XM_005248168.2:c.764A>G XP_005248225.1:p.Tyr255Cys
XM_006713965.2:c.821A>G XP_006714028.1:p.Tyr274Cys
XM_011513846.1:c.998A>G XP_011512148.1:p.Tyr333Cys
XM_011513847.1:c.968A>G XP_011512149.1:p.Tyr323Cys
XM_011513848.1:c.821A>G XP_011512150.1:p.Tyr274Cys
XM_011513846.2:c.998A>G XP_011512148.1:p.Tyr333Cys
XM_011513847.2:c.968A>G XP_011512149.1:p.Tyr323Cys
XM_017008277.1:c.1256A>G XP_016863766.1:p.Tyr419Cys
XM_017008278.1:c.578A>G XP_016863767.1:p.Tyr193Cys
NM_016955.4:c.1001A>G MANE Select NP_058651.3:p.Tyr334Cys
Search 100 bp 5'
Search 100 bp 3'