Canonical Allele Identifier: CA226290371
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2782216
ClinVar RCV Id: RCV003663823
dbSNP Id: rs56414416
gnomAD v2: 11-88911505-C-G
gnomAD v4: 11-89178337-C-G
MyVariant Identifiers: chr11:g.88911505C>G (hg19) chr11:g.89178337C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178337C>G , CM000673.2:g.89178337C>G GRCh38
NC_000011.9:g.88911505C>G , CM000673.1:g.88911505C>G GRCh37
NC_000011.8:g.88551153C>G NCBI36
NG_008748.1:g.5466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.384C>G MANE Select ENSP00000263321.4:p.Ala128=
ENST00000263321.5:c.384C>G ENSP00000263321.4:p.Ala128=
ENST00000526139.1:n.445C>G
NM_000372.4:c.384C>G NP_000363.1:p.Ala128=
XM_011542970.1:c.384C>G XP_011541272.1:p.Ala128=
XM_011542970.2:c.384C>G XP_011541272.1:p.Ala128=
XR_001748321.1:n.2718-64804G>C
XR_001748322.1:n.2733-64804G>C
NM_000372.5:c.384C>G MANE Select NP_000363.1:p.Ala128=
Search 100 bp 5'
Search 100 bp 3'