Canonical Allele Identifier: CA227535
Gene: TYR HGNC NCBI
gnomAD v2:
11:89028444 T / TC
gnomAD v3:
11:89295276 T / TC
gnomAD v4:
chr11-89295276-T-TC
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000004008
RCV000085928
ClinVar Variation:
3804
dbSNP:
281865328
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89295277dup , CM000673.2:g.89295277dup GRCh38
NC_000011.9:g.89028445dup , CM000673.1:g.89028445dup GRCh37
NC_000011.8:g.88668093dup NCBI36
NG_008748.1:g.122406dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1501dup MANE Select ENSP00000263321.4:p.Arg501ProfsTer9
ENST00000263321.5:c.1501dup ENSP00000263321.4:p.Arg501ProfsTer9
ENST00000528243.1:n.499dup
NM_000372.4:c.1501dup NP_000363.1:p.Arg501ProfsTer9
NM_000372.5:c.1501dup MANE Select NP_000363.1:p.Arg501ProfsTer9
Search 100 bp 5'
Search 100 bp 3'