Canonical Allele Identifier: CA6221074
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2192740
ClinVar RCV Id: RCV002643810
dbSNP Id: rs780573341
ExAC: 11:88911383 A / T
gnomAD v2: 11-88911383-A-T
gnomAD v3: 11-89178215-A-T
gnomAD v4: 11-89178215-A-T
MyVariant Identifiers: chr11:g.88911383A>T (hg19) chr11:g.89178215A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178215A>T , CM000673.2:g.89178215A>T GRCh38
NC_000011.9:g.88911383A>T , CM000673.1:g.88911383A>T GRCh37
NC_000011.8:g.88551031A>T NCBI36
NG_008748.1:g.5344A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.262A>T MANE Select ENSP00000263321.4:p.Thr88Ser
ENST00000263321.5:c.262A>T ENSP00000263321.4:p.Thr88Ser
ENST00000526139.1:n.323A>T
NM_000372.4:c.262A>T NP_000363.1:p.Thr88Ser
XM_011542970.1:c.262A>T XP_011541272.1:p.Thr88Ser
XM_011542970.2:c.262A>T XP_011541272.1:p.Thr88Ser
XR_001748321.1:n.2718-64682T>A
XR_001748322.1:n.2733-64682T>A
NM_000372.5:c.262A>T MANE Select NP_000363.1:p.Thr88Ser
Search 100 bp 5'
Search 100 bp 3'