Canonical Allele Identifier: CA343155214
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169731919T>A
GRCh38 chr1:g.169731919_169731920delinsAG
GRCh37 chr1:g.169701060T>A
GRCh37 chr1:g.169701060_169701061delinsAG
Revel Score:
ENST00000367781 0.697
ENST00000367782 0.697
ENST00000367780 0.697
ENST00000367779 0.697
ENST00000333360 (MANE Select) 0.697
ENST00000367777 0.697
ENST00000367775 0.697
ENST00000367776 0.697
ENST00000367774 0.697
gnomAD v2:
1:169701060 T / A
gnomAD v4:
chr1-169731919-T-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
5361
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731919T>A , CM000663.2:g.169731919T>A GRCh38
NC_000001.10:g.169701060T>A , CM000663.1:g.169701060T>A GRCh37
NC_000001.9:g.167967684T>A NCBI36
NG_012124.1:g.7161A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.445A>T (SELE) MANE Select ENSP00000331736.7:p.Ser149Cys
ENST00000333360.11:c.445A>T (SELE) ENSP00000331736.7:p.Ser149Cys
ENST00000367774.1:c.445A>T (SELE) ENSP00000356748.1:p.Ser149Cys
ENST00000367775.5:c.445A>T (SELE) ENSP00000356749.1:p.Ser149Cys
ENST00000367776.5:c.445A>T (SELE) ENSP00000356750.1:p.Ser149Cys
ENST00000367777.5:c.445A>T (SELE) ENSP00000356751.1:p.Ser149Cys
ENST00000461085.1:n.128A>T (SELE)
ENST00000498289.5:n.851+47987T>A (FIRRM)
NM_000450.2:c.445A>T (SELE) MANE Select NP_000441.2:p.Ser149Cys
Search 100 bp 5'
Search 100 bp 3'