Canonical Allele Identifier: CA227542
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99553
ClinVar RCV Id: RCV003467006
dbSNP Id: rs61753184
ExAC: 11:88911350 C / T
gnomAD v2: 11-88911350-C-T
gnomAD v3: 11-89178182-C-T
gnomAD v4: 11-89178182-C-T
MyVariant Identifiers: chr11:g.88911350C>T (hg19) chr11:g.89178182C>T (hg38)
PubMed: PMID:9259202
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178182C>T , CM000673.2:g.89178182C>T GRCh38
NC_000011.9:g.88911350C>T , CM000673.1:g.88911350C>T GRCh37
NC_000011.8:g.88550998C>T NCBI36
NG_008748.1:g.5311C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.229C>T MANE Select ENSP00000263321.4:p.Arg77Trp
ENST00000263321.5:c.229C>T ENSP00000263321.4:p.Arg77Trp
ENST00000526139.1:n.290C>T
NM_000372.4:c.229C>T NP_000363.1:p.Arg77Trp
XM_011542970.1:c.229C>T XP_011541272.1:p.Arg77Trp
XM_011542970.2:c.229C>T XP_011541272.1:p.Arg77Trp
XR_001748321.1:n.2718-64649G>A
XR_001748322.1:n.2733-64649G>A
NM_000372.5:c.229C>T MANE Select NP_000363.1:p.Arg77Trp
Search 100 bp 5'
Search 100 bp 3'