Canonical Allele Identifier: CA227533
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99550
ClinVar RCV Id: RCV000085927
dbSNP Id: rs61753181
gnomAD v4: 11-89178102-C-G
MyVariant Identifiers: chr11:g.88911270C>G (hg19) chr11:g.89178102C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178102C>G , CM000673.2:g.89178102C>G GRCh38
NC_000011.9:g.88911270C>G , CM000673.1:g.88911270C>G GRCh37
NC_000011.8:g.88550918C>G NCBI36
NG_008748.1:g.5231C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.149C>G MANE Select ENSP00000263321.4:p.Ser50Ter
ENST00000263321.5:c.149C>G ENSP00000263321.4:p.Ser50Ter
ENST00000526139.1:n.210C>G
NM_000372.4:c.149C>G NP_000363.1:p.Ser50Ter
XM_011542970.1:c.149C>G XP_011541272.1:p.Ser50Ter
XM_011542970.2:c.149C>G XP_011541272.1:p.Ser50Ter
XR_001748321.1:n.2718-64569G>C
XR_001748322.1:n.2733-64569G>C
NM_000372.5:c.149C>G MANE Select NP_000363.1:p.Ser50Ter
Search 100 bp 5'
Search 100 bp 3'