Canonical Allele Identifier: CA6221189
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 284407
ClinVar RCV Id: RCV000310160
dbSNP Id: rs200936835
ExAC: 11:88911880 A / T
gnomAD v2: 11-88911880-A-T
gnomAD v3: 11-89178712-A-T
gnomAD v4: 11-89178712-A-T
MyVariant Identifiers: chr11:g.88911880A>T (hg19) chr11:g.89178712A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178712A>T , CM000673.2:g.89178712A>T GRCh38
NC_000011.9:g.88911880A>T , CM000673.1:g.88911880A>T GRCh37
NC_000011.8:g.88551528A>T NCBI36
NG_008748.1:g.5841A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.759A>T MANE Select ENSP00000263321.4:p.Gly253=
ENST00000263321.5:c.759A>T ENSP00000263321.4:p.Gly253=
ENST00000526139.1:n.820A>T
NM_000372.4:c.759A>T NP_000363.1:p.Gly253=
XM_011542970.1:c.759A>T XP_011541272.1:p.Gly253=
XM_011542970.2:c.759A>T XP_011541272.1:p.Gly253=
XR_001748321.1:n.2718-65179T>A
XR_001748322.1:n.2733-65179T>A
NM_000372.5:c.759A>T MANE Select NP_000363.1:p.Gly253=
Search 100 bp 5'
Search 100 bp 3'