Canonical Allele Identifier: CA309694955
Gene: IGLON5 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.51311854C>A
GRCh37 chr19:g.51815108C>A
Revel Score:
ENST00000270642 (MANE Select) 0.104
gnomAD v3:
19:51311854 C / A
gnomAD v4:
chr19-51311854-C-A
Joint Max Group AF 0.00004035 (AFR)
Genomes Max Group AF 0.00003261 (AFR)
Exomes Max Group AF 0.00001522 (AFR)
ClinVar RCV:
RCV004107459
ClinVar Variation:
2251723
dbSNP:
576949224
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.51311854C>A , CM000681.2:g.51311854C>A GRCh38
NC_000019.9:g.51815108C>A , CM000681.1:g.51815108C>A GRCh37
NC_000019.8:g.56506920C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270642.9:c.7C>A MANE Select ENSP00000270642.8:p.Pro3Thr
ENST00000270642.8:c.7C>A ENSP00000270642.8:p.Pro3Thr
NM_001101372.1:c.7C>A NP_001094842.1:p.Pro3Thr
NM_001101372.2:c.7C>A NP_001094842.1:p.Pro3Thr
NM_001101372.3:c.7C>A MANE Select NP_001094842.1:p.Pro3Thr
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