Canonical Allele Identifier: CA382035196
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 620587
dbSNP Id: rs1565386964

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178667G>A , CM000673.2:g.89178667G>A GRCh38
NC_000011.9:g.88911835G>A , CM000673.1:g.88911835G>A GRCh37
NC_000011.8:g.88551483G>A NCBI36
NG_008748.1:g.5796G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.714G>A MANE Select ENSP00000263321.4:p.Trp238Ter
ENST00000263321.5:c.714G>A ENSP00000263321.4:p.Trp238Ter
ENST00000526139.1:n.775G>A
NM_000372.4:c.714G>A NP_000363.1:p.Trp238Ter
XM_011542970.1:c.714G>A XP_011541272.1:p.Trp238Ter
XM_011542970.2:c.714G>A XP_011541272.1:p.Trp238Ter
XR_001748321.1:n.2718-65134C>T
XR_001748322.1:n.2733-65134C>T
NM_000372.5:c.714G>A MANE Select NP_000363.1:p.Trp238Ter