Canonical Allele Identifier: CA227489
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99527
ClinVar RCV Id: RCV001814058 RCV001838981 RCV002287366 RCV002477252 RCV003407478 RCV003460773
dbSNP Id: rs61754381
ExAC: 11:88960984 T / A
gnomAD v2: 11-88960984-T-A
gnomAD v3: 11-89227816-T-A
gnomAD v4: 11-89227816-T-A
MyVariant Identifiers: chr11:g.88960984T>A (hg19) chr11:g.89227816T>A (hg38)
PubMed: PMID:8217557 PMID:15381243 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19865097 PMID:20861488 PMID:22294196 PMID:23891399 PMID:24721949 PMID:25525159 PMID:25919014
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89227816T>A , CM000673.2:g.89227816T>A GRCh38
NC_000011.9:g.88960984T>A , CM000673.1:g.88960984T>A GRCh37
NC_000011.8:g.88600632T>A NCBI36
NG_008748.1:g.54945T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1037-7T>A MANE Select ENSP00000263321.4:n.1037-7T>A
ENST00000263321.5:c.1037-7T>A ENSP00000263321.4:n.1037-7T>A
NM_000372.4:c.1037-7T>A NP_000363.1:n.1037-7T>A
XM_011542970.1:c.1037-7T>A XP_011541272.1:n.1037-7T>A
XM_011542970.2:c.1037-7T>A XP_011541272.1:n.1037-7T>A
XR_001748321.1:n.2717+43644A>T
XR_001748322.1:n.2732+43644A>T
NM_000372.5:c.1037-7T>A MANE Select NP_000363.1:n.1037-7T>A
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