Canonical Allele Identifier: CA343152164
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169729524A>G
GRCh37 chr1:g.169698665A>G
Revel Score:
ENST00000367781 0.488
ENST00000367782 0.488
ENST00000367780 0.488
ENST00000367779 0.488
ENST00000333360 (MANE Select) 0.488
ENST00000367777 0.488
ENST00000367775 0.488
ENST00000367776 0.488
ENST00000367774 0.488
gnomAD v2:
1:169698665 A / G
gnomAD v3:
1:169729524 A / G
gnomAD v4:
chr1-169729524-A-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004144009
ClinVar Variation:
2291198
dbSNP:
1373695866
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169729524A>G , CM000663.2:g.169729524A>G GRCh38
NC_000001.10:g.169698665A>G , CM000663.1:g.169698665A>G GRCh37
NC_000001.9:g.167965289A>G NCBI36
NG_012124.1:g.9556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.865T>C (SELE) MANE Select ENSP00000331736.7:p.Ser289Pro
ENST00000333360.11:c.865T>C (SELE) ENSP00000331736.7:p.Ser289Pro
ENST00000367774.1:c.865T>C (SELE) ENSP00000356748.1:p.Ser289Pro
ENST00000367775.5:c.679T>C (SELE) ENSP00000356749.1:p.Ser227Pro
ENST00000367776.5:c.865T>C (SELE) ENSP00000356750.1:p.Ser289Pro
ENST00000367777.5:c.865T>C (SELE) ENSP00000356751.1:p.Ser289Pro
ENST00000498289.5:n.851+45592A>G (FIRRM)
NM_000450.2:c.865T>C (SELE) MANE Select NP_000441.2:p.Ser289Pro
Search 100 bp 5'
Search 100 bp 3'