Canonical Allele Identifier: CA6221094
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2108001
ClinVar RCV Id: RCV003017562
dbSNP Id: rs746912942
ExAC: 11:88911480 G / A
gnomAD v2: 11-88911480-G-A
gnomAD v4: 11-89178312-G-A
MyVariant Identifiers: chr11:g.88911480G>A (hg19) chr11:g.89178312G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178312G>A , CM000673.2:g.89178312G>A GRCh38
NC_000011.9:g.88911480G>A , CM000673.1:g.88911480G>A GRCh37
NC_000011.8:g.88551128G>A NCBI36
NG_008748.1:g.5441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.359G>A MANE Select ENSP00000263321.4:p.Arg120Lys
ENST00000263321.5:c.359G>A ENSP00000263321.4:p.Arg120Lys
ENST00000526139.1:n.420G>A
NM_000372.4:c.359G>A NP_000363.1:p.Arg120Lys
XM_011542970.1:c.359G>A XP_011541272.1:p.Arg120Lys
XM_011542970.2:c.359G>A XP_011541272.1:p.Arg120Lys
XR_001748321.1:n.2718-64779C>T
XR_001748322.1:n.2733-64779C>T
NM_000372.5:c.359G>A MANE Select NP_000363.1:p.Arg120Lys
Search 100 bp 5'
Search 100 bp 3'