Canonical Allele Identifier: CA6221072
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2417480
ClinVar RCV Id: RCV003114949
dbSNP Id: rs746208814
ExAC: 11:88911376 T / C
gnomAD v2: 11-88911376-T-C
gnomAD v4: 11-89178208-T-C
MyVariant Identifiers: chr11:g.88911376T>C (hg19) chr11:g.89178208T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178208T>C , CM000673.2:g.89178208T>C GRCh38
NC_000011.9:g.88911376T>C , CM000673.1:g.88911376T>C GRCh37
NC_000011.8:g.88551024T>C NCBI36
NG_008748.1:g.5337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.255T>C MANE Select ENSP00000263321.4:p.Tyr85=
ENST00000263321.5:c.255T>C ENSP00000263321.4:p.Tyr85=
ENST00000526139.1:n.316T>C
NM_000372.4:c.255T>C NP_000363.1:p.Tyr85=
XM_011542970.1:c.255T>C XP_011541272.1:p.Tyr85=
XM_011542970.2:c.255T>C XP_011541272.1:p.Tyr85=
XR_001748321.1:n.2718-64675A>G
XR_001748322.1:n.2733-64675A>G
NM_000372.5:c.255T>C MANE Select NP_000363.1:p.Tyr85=
Search 100 bp 5'
Search 100 bp 3'