Canonical Allele Identifier: CA32480881
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169729644C>A
GRCh37 chr1:g.169698785C>A
Revel Score:
ENST00000367781 0.085
ENST00000367782 0.085
ENST00000367780 0.085
ENST00000367779 0.085
ENST00000333360 (MANE Select) 0.085
ENST00000367777 0.085
ENST00000367775 0.085
ENST00000367776 0.085
ENST00000367774 0.085
gnomAD v2:
1:169698785 C / A
gnomAD v3:
1:169729644 C / A
gnomAD v4:
chr1-169729644-C-A
Joint Max Group AF 0.00000429 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV004314885
ClinVar Variation:
2545148
dbSNP:
914057721
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169729644C>A , CM000663.2:g.169729644C>A GRCh38
NC_000001.10:g.169698785C>A , CM000663.1:g.169698785C>A GRCh37
NC_000001.9:g.167965409C>A NCBI36
NG_012124.1:g.9436G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.745G>T (SELE) MANE Select ENSP00000331736.7:p.Ala249Ser
ENST00000333360.11:c.745G>T (SELE) ENSP00000331736.7:p.Ala249Ser
ENST00000367774.1:c.745G>T (SELE) ENSP00000356748.1:p.Ala249Ser
ENST00000367775.5:c.559G>T (SELE) ENSP00000356749.1:p.Ala187Ser
ENST00000367776.5:c.745G>T (SELE) ENSP00000356750.1:p.Ala249Ser
ENST00000367777.5:c.745G>T (SELE) ENSP00000356751.1:p.Ala249Ser
ENST00000498289.5:n.851+45712C>A (FIRRM)
NM_000450.2:c.745G>T (SELE) MANE Select NP_000441.2:p.Ala249Ser
Search 100 bp 5'
Search 100 bp 3'