Canonical Allele Identifier: CA382035058
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2907416
ClinVar RCV Id: RCV003727123
dbSNP Id: rs1943260292
gnomAD v4: 11-89178606-G-A
MyVariant Identifiers: chr11:g.88911774G>A (hg19) chr11:g.89178606G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178606G>A , CM000673.2:g.89178606G>A GRCh38
NC_000011.9:g.88911774G>A , CM000673.1:g.88911774G>A GRCh37
NC_000011.8:g.88551422G>A NCBI36
NG_008748.1:g.5735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.653G>A MANE Select ENSP00000263321.4:p.Trp218Ter
ENST00000263321.5:c.653G>A ENSP00000263321.4:p.Trp218Ter
ENST00000526139.1:n.714G>A
NM_000372.4:c.653G>A NP_000363.1:p.Trp218Ter
XM_011542970.1:c.653G>A XP_011541272.1:p.Trp218Ter
XM_011542970.2:c.653G>A XP_011541272.1:p.Trp218Ter
XR_001748321.1:n.2718-65073C>T
XR_001748322.1:n.2733-65073C>T
NM_000372.5:c.653G>A MANE Select NP_000363.1:p.Trp218Ter
Search 100 bp 5'
Search 100 bp 3'