Canonical Allele Identifier: CA6221146
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 617796
ClinVar RCV Id: RCV000755069
dbSNP Id: rs147574809
ExAC: 11:88911706 G / A
MyVariant Identifiers: chr11:g.88911706G>A (hg19) chr11:g.89178538G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178538G>A , CM000673.2:g.89178538G>A GRCh38
NC_000011.9:g.88911706G>A , CM000673.1:g.88911706G>A GRCh37
NC_000011.8:g.88551354G>A NCBI36
NG_008748.1:g.5667G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.585G>A MANE Select ENSP00000263321.4:p.Trp195Ter
ENST00000263321.5:c.585G>A ENSP00000263321.4:p.Trp195Ter
ENST00000526139.1:n.646G>A
NM_000372.4:c.585G>A NP_000363.1:p.Trp195Ter
XM_011542970.1:c.585G>A XP_011541272.1:p.Trp195Ter
XM_011542970.2:c.585G>A XP_011541272.1:p.Trp195Ter
XR_001748321.1:n.2718-65005C>T
XR_001748322.1:n.2733-65005C>T
NM_000372.5:c.585G>A MANE Select NP_000363.1:p.Trp195Ter
Search 100 bp 5'
Search 100 bp 3'