Canonical Allele Identifier: CA1235992
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169726729G>A
GRCh37 chr1:g.169695870G>A
Revel Score:
ENST00000367781 0.074
ENST00000367782 0.074
ENST00000367780 0.074
ENST00000367779 0.074
ENST00000333360 (MANE Select) 0.074
ENST00000367777 0.074
ENST00000367775 0.074
ENST00000367776 0.074
ENST00000367774 0.074
gnomAD v2:
1:169695870 G / A
gnomAD v3:
1:169726729 G / A
gnomAD v4:
chr1-169726729-G-A
Joint Max Group AF 0.08998098 (SAS)
Genomes Max Group AF 0.08694746 (SAS)
Exomes Max Group AF 0.08979813 (SAS)
ClinVar RCV:
RCV002245537
ClinVar Variation:
1684530
dbSNP:
5355
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169726729G>A , CM000663.2:g.169726729G>A GRCh38
NC_000001.10:g.169695870G>A , CM000663.1:g.169695870G>A GRCh37
NC_000001.9:g.167962494G>A NCBI36
NG_012124.1:g.12351C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.1723C>T (SELE) MANE Select ENSP00000331736.7:p.Leu575Phe
ENST00000333360.11:c.1723C>T (SELE) ENSP00000331736.7:p.Leu575Phe
ENST00000367774.1:c.1345C>T (SELE) ENSP00000356748.1:p.Leu449Phe
ENST00000367775.5:c.1348C>T (SELE) ENSP00000356749.1:p.Leu450Phe
ENST00000367776.5:c.1534C>T (SELE) ENSP00000356750.1:p.Leu512Phe
ENST00000367777.5:c.1534C>T (SELE) ENSP00000356751.1:p.Leu512Phe
ENST00000498289.5:n.851+42797G>A (FIRRM)
NM_000450.2:c.1723C>T (SELE) MANE Select NP_000441.2:p.Leu575Phe
Search 100 bp 5'
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