Canonical Allele Identifier: CA476157182
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2011592
ClinVar RCV Id: RCV002851311
dbSNP Id: rs1464099781
gnomAD v2: 11-88911379-T-C
gnomAD v4: 11-89178211-T-C
MyVariant Identifiers: chr11:g.88911379T>C (hg19) chr11:g.89178211T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178211T>C , CM000673.2:g.89178211T>C GRCh38
NC_000011.9:g.88911379T>C , CM000673.1:g.88911379T>C GRCh37
NC_000011.8:g.88551027T>C NCBI36
NG_008748.1:g.5340T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.258T>C MANE Select ENSP00000263321.4:p.Asn86=
ENST00000263321.5:c.258T>C ENSP00000263321.4:p.Asn86=
ENST00000526139.1:n.319T>C
NM_000372.4:c.258T>C NP_000363.1:p.Asn86=
XM_011542970.1:c.258T>C XP_011541272.1:p.Asn86=
XM_011542970.2:c.258T>C XP_011541272.1:p.Asn86=
XR_001748321.1:n.2718-64678A>G
XR_001748322.1:n.2733-64678A>G
NM_000372.5:c.258T>C MANE Select NP_000363.1:p.Asn86=
Search 100 bp 5'
Search 100 bp 3'