Canonical Allele Identifier: CA476157230
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2907618
ClinVar RCV Id: RCV003727235
dbSNP Id: rs1943253722
gnomAD v4: 11-89178304-C-A
MyVariant Identifiers: chr11:g.88911472C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178304C>A , CM000673.2:g.89178304C>A GRCh38
NC_000011.9:g.88911472C>A , CM000673.1:g.88911472C>A GRCh37
NC_000011.8:g.88551120C>A NCBI36
NG_008748.1:g.5433C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.351C>A MANE Select ENSP00000263321.4:p.Leu117=
ENST00000263321.5:c.351C>A ENSP00000263321.4:p.Leu117=
ENST00000526139.1:n.412C>A
NM_000372.4:c.351C>A NP_000363.1:p.Leu117=
XM_011542970.1:c.351C>A XP_011541272.1:p.Leu117=
XM_011542970.2:c.351C>A XP_011541272.1:p.Leu117=
XR_001748321.1:n.2718-64771G>T
XR_001748322.1:n.2733-64771G>T
NM_000372.5:c.351C>A MANE Select NP_000363.1:p.Leu117=
Search 100 bp 5'
Search 100 bp 3'