Canonical Allele Identifier: CA227531
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 3794
ClinVar RCV Id: RCV000003997 RCV000003998 RCV000085925 RCV000763287 RCV001267064 RCV004532284 RCV003460421
dbSNP Id: rs61753180
ExAC: 11:88911261 G / A
gnomAD v2: 11-88911261-G-A
gnomAD v3: 11-89178093-G-A
gnomAD v4: 11-89178093-G-A
MyVariant Identifiers: chr11:g.88911261G>A (hg19) chr11:g.89178093G>A (hg38)
PubMed: PMID:1642278 PMID:8434585 PMID:18925668
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178093G>A , CM000673.2:g.89178093G>A GRCh38
NC_000011.9:g.88911261G>A , CM000673.1:g.88911261G>A GRCh37
NC_000011.8:g.88550909G>A NCBI36
NG_008748.1:g.5222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.140G>A MANE Select ENSP00000263321.4:p.Gly47Asp
ENST00000263321.5:c.140G>A ENSP00000263321.4:p.Gly47Asp
ENST00000526139.1:n.201G>A
NM_000372.4:c.140G>A NP_000363.1:p.Gly47Asp
XM_011542970.1:c.140G>A XP_011541272.1:p.Gly47Asp
XM_011542970.2:c.140G>A XP_011541272.1:p.Gly47Asp
XR_001748321.1:n.2718-64560C>T
XR_001748322.1:n.2733-64560C>T
NM_000372.5:c.140G>A MANE Select NP_000363.1:p.Gly47Asp
Search 100 bp 5'
Search 100 bp 3'