Canonical Allele Identifier: CA227592
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99583
ClinVar RCV Id: RCV000085974 RCV000502958 RCV000755071 RCV000762869 RCV000778349 RCV003407479 RCV003460786 RCV003488383
dbSNP Id: rs62645904
ExAC: 11:88924382 C / T
gnomAD v2: 11-88924382-C-T
gnomAD v3: 11-89191214-C-T
gnomAD v4: 11-89191214-C-T
COSMIC: COSM4738536
MyVariant Identifiers: chr11:g.88924382C>T (hg19) chr11:g.89191214C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89191214C>T , CM000673.2:g.89191214C>T GRCh38
NC_000011.9:g.88924382C>T , CM000673.1:g.88924382C>T GRCh37
NC_000011.8:g.88564030C>T NCBI36
NG_008748.1:g.18343C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.832C>T MANE Select ENSP00000263321.4:p.Arg278Ter
ENST00000263321.5:c.832C>T ENSP00000263321.4:p.Arg278Ter
ENST00000526139.1:n.893C>T
NM_000372.4:c.832C>T NP_000363.1:p.Arg278Ter
XM_011542970.1:c.832C>T XP_011541272.1:p.Arg278Ter
XM_011542970.2:c.832C>T XP_011541272.1:p.Arg278Ter
XR_001748321.1:n.2718-77681G>A
XR_001748322.1:n.2733-77681G>A
NM_000372.5:c.832C>T MANE Select NP_000363.1:p.Arg278Ter
Search 100 bp 5'
Search 100 bp 3'