Canonical Allele Identifier: CA382035062
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 449543
ClinVar RCV Id: RCV000521185 RCV001591180 RCV003464111
dbSNP Id: rs747995722
MyVariant Identifiers: chr11:g.88911776G>A (hg19) chr11:g.89178608G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178608G>A , CM000673.2:g.89178608G>A GRCh38
NC_000011.9:g.88911776G>A , CM000673.1:g.88911776G>A GRCh37
NC_000011.8:g.88551424G>A NCBI36
NG_008748.1:g.5737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.655G>A MANE Select ENSP00000263321.4:p.Glu219Lys
ENST00000263321.5:c.655G>A ENSP00000263321.4:p.Glu219Lys
ENST00000526139.1:n.716G>A
NM_000372.4:c.655G>A NP_000363.1:p.Glu219Lys
XM_011542970.1:c.655G>A XP_011541272.1:p.Glu219Lys
XM_011542970.2:c.655G>A XP_011541272.1:p.Glu219Lys
XR_001748321.1:n.2718-65075C>T
XR_001748322.1:n.2733-65075C>T
NM_000372.5:c.655G>A MANE Select NP_000363.1:p.Glu219Lys
Search 100 bp 5'
Search 100 bp 3'