Canonical Allele Identifier: CA6221178
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2137231
ClinVar RCV Id: RCV003062446
dbSNP Id: rs538081629
ExAC: 11:88911842 G / A
gnomAD v2: 11-88911842-G-A
gnomAD v3: 11-89178674-G-A
gnomAD v4: 11-89178674-G-A
MyVariant Identifiers: chr11:g.88911842G>A (hg19) chr11:g.89178674G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178674G>A , CM000673.2:g.89178674G>A GRCh38
NC_000011.9:g.88911842G>A , CM000673.1:g.88911842G>A GRCh37
NC_000011.8:g.88551490G>A NCBI36
NG_008748.1:g.5803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.721G>A MANE Select ENSP00000263321.4:p.Ala241Thr
ENST00000263321.5:c.721G>A ENSP00000263321.4:p.Ala241Thr
ENST00000526139.1:n.782G>A
NM_000372.4:c.721G>A NP_000363.1:p.Ala241Thr
XM_011542970.1:c.721G>A XP_011541272.1:p.Ala241Thr
XM_011542970.2:c.721G>A XP_011541272.1:p.Ala241Thr
XR_001748321.1:n.2718-65141C>T
XR_001748322.1:n.2733-65141C>T
NM_000372.5:c.721G>A MANE Select NP_000363.1:p.Ala241Thr
Search 100 bp 5'
Search 100 bp 3'