Canonical Allele Identifier: CA9383483
Gene: UPK1A HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35675972A>C
GRCh37 chr19:g.36166874A>C
Revel Score:
ENST00000222275 (MANE Select) 0.208
ENST00000379013 0.208
gnomAD v2:
19:36166874 A / C
gnomAD v3:
19:35675972 A / C
gnomAD v4:
chr19-35675972-A-C
Joint Max Group AF 0.00023137 (AFR)
Genomes Max Group AF 0.00022246 (AFR)
Exomes Max Group AF 0.00016125 (AFR)
ClinVar RCV:
RCV004107458
ClinVar Variation:
2251722
dbSNP:
757651035
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35675972A>C , CM000681.2:g.35675972A>C GRCh38
NC_000019.9:g.36166874A>C , CM000681.1:g.36166874A>C GRCh37
NC_000019.8:g.40858714A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000222275.3:c.601A>C MANE Select ENSP00000222275.2:p.Asn201His
ENST00000222275.2:c.601A>C ENSP00000222275.2:p.Asn201His
ENST00000379013.6:c.601A>C ENSP00000368298.1:p.Asn201His
ENST00000616789.4:c.601A>C ENSP00000478942.1:p.Asn201His
ENST00000617999.4:c.601A>C ENSP00000483176.1:p.Asn201His
NM_001281443.1:c.601A>C NP_001268372.1:p.Asn201His
NM_007000.3:c.601A>C NP_008931.1:p.Asn201His
NM_001281443.2:c.601A>C NP_001268372.1:p.Asn201His
NM_007000.4:c.601A>C MANE Select NP_008931.1:p.Asn201His
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