Canonical Allele Identifier: CA277301
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 212705
ClinVar RCV Id: RCV002517156
dbSNP Id: rs797046132
gnomAD v4: 11-89178530-GA-G
MyVariant Identifiers: chr11:g.88911701del (hg19) chr11:g.89178533del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178533del , CM000673.2:g.89178533del GRCh38
NC_000011.9:g.88911701del , CM000673.1:g.88911701del GRCh37
NC_000011.8:g.88551349del NCBI36
NG_008748.1:g.5662del

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.580del MANE Select ENSP00000263321.4:p.Ile194SerfsTer?
ENST00000263321.5:c.580del ENSP00000263321.4:p.Ile194SerfsTer?
ENST00000526139.1:n.641del
NM_000372.4:c.580del NP_000363.1:p.Ile194SerfsTer?
XM_011542970.1:c.580del XP_011541272.1:p.Ile194SerfsTer?
XM_011542970.2:c.580del XP_011541272.1:p.Ile194SerfsTer?
XR_001748321.1:n.2718-64998del
XR_001748322.1:n.2733-64998del
NM_000372.5:c.580del MANE Select NP_000363.1:p.Ile194SerfsTer?
Search 100 bp 5'
Search 100 bp 3'