Canonical Allele Identifier: CA382034075
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1442280
ClinVar RCV Id: RCV001969826 RCV003464274
dbSNP Id: rs1320376090
gnomAD v2: 11-88911411-G-T
gnomAD v3: 11-89178243-G-T
gnomAD v4: 11-89178243-G-T
MyVariant Identifiers: chr11:g.88911411G>T (hg19) chr11:g.89178243G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178243G>T , CM000673.2:g.89178243G>T GRCh38
NC_000011.9:g.88911411G>T , CM000673.1:g.88911411G>T GRCh37
NC_000011.8:g.88551059G>T NCBI36
NG_008748.1:g.5372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.290G>T MANE Select ENSP00000263321.4:p.Gly97Val
ENST00000263321.5:c.290G>T ENSP00000263321.4:p.Gly97Val
ENST00000526139.1:n.351G>T
NM_000372.4:c.290G>T NP_000363.1:p.Gly97Val
XM_011542970.1:c.290G>T XP_011541272.1:p.Gly97Val
XM_011542970.2:c.290G>T XP_011541272.1:p.Gly97Val
XR_001748321.1:n.2718-64710C>A
XR_001748322.1:n.2733-64710C>A
NM_000372.5:c.290G>T MANE Select NP_000363.1:p.Gly97Val
Search 100 bp 5'
Search 100 bp 3'