Canonical Allele Identifier: CA6221071
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1379731
ClinVar RCV Id: RCV001914922
dbSNP Id: rs746208814
ExAC: 11:88911376 T / A
gnomAD v2: 11-88911376-T-A
gnomAD v4: 11-89178208-T-A
MyVariant Identifiers: chr11:g.88911376T>A (hg19) chr11:g.89178208T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.255T>A MANE Select ENSP00000263321.4:p.Tyr85Ter
ENST00000263321.5:c.255T>A ENSP00000263321.4:p.Tyr85Ter
ENST00000526139.1:n.316T>A
NM_000372.4:c.255T>A NP_000363.1:p.Tyr85Ter
XM_011542970.1:c.255T>A XP_011541272.1:p.Tyr85Ter
XM_011542970.2:c.255T>A XP_011541272.1:p.Tyr85Ter
XR_001748321.1:n.2718-64675A>T
XR_001748322.1:n.2733-64675A>T
NM_000372.5:c.255T>A MANE Select NP_000363.1:p.Tyr85Ter
Search 100 bp 5'
Search 100 bp 3'