Canonical Allele Identifier: CA6221069
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1366846
ClinVar RCV Id: RCV001962164
dbSNP Id: rs149684917
ExAC: 11:88911368 G / A
gnomAD v2: 11-88911368-G-A
gnomAD v4: 11-89178200-G-A
MyVariant Identifiers: chr11:g.88911368G>A (hg19) chr11:g.89178200G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178200G>A , CM000673.2:g.89178200G>A GRCh38
NC_000011.9:g.88911368G>A , CM000673.1:g.88911368G>A GRCh37
NC_000011.8:g.88551016G>A NCBI36
NG_008748.1:g.5329G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.247G>A MANE Select ENSP00000263321.4:p.Val83Ile
ENST00000263321.5:c.247G>A ENSP00000263321.4:p.Val83Ile
ENST00000526139.1:n.308G>A
NM_000372.4:c.247G>A NP_000363.1:p.Val83Ile
XM_011542970.1:c.247G>A XP_011541272.1:p.Val83Ile
XM_011542970.2:c.247G>A XP_011541272.1:p.Val83Ile
XR_001748321.1:n.2718-64667C>T
XR_001748322.1:n.2733-64667C>T
NM_000372.5:c.247G>A MANE Select NP_000363.1:p.Val83Ile
Search 100 bp 5'
Search 100 bp 3'