Canonical Allele Identifier: CA6221152
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1458819
ClinVar RCV Id: RCV001949604
dbSNP Id: rs754661359
ExAC: 11:88911727 T / G
gnomAD v2: 11-88911727-T-G
gnomAD v4: 11-89178559-T-G
MyVariant Identifiers: chr11:g.88911727T>G (hg19) chr11:g.89178559T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178559T>G , CM000673.2:g.89178559T>G GRCh38
NC_000011.9:g.88911727T>G , CM000673.1:g.88911727T>G GRCh37
NC_000011.8:g.88551375T>G NCBI36
NG_008748.1:g.5688T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.606T>G MANE Select ENSP00000263321.4:p.His202Gln
ENST00000263321.5:c.606T>G ENSP00000263321.4:p.His202Gln
ENST00000526139.1:n.667T>G
NM_000372.4:c.606T>G NP_000363.1:p.His202Gln
XM_011542970.1:c.606T>G XP_011541272.1:p.His202Gln
XM_011542970.2:c.606T>G XP_011541272.1:p.His202Gln
XR_001748321.1:n.2718-65026A>C
XR_001748322.1:n.2733-65026A>C
NM_000372.5:c.606T>G MANE Select NP_000363.1:p.His202Gln
Search 100 bp 5'
Search 100 bp 3'