Canonical Allele Identifier: CA227527
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99547
ClinVar RCV Id: RCV000085922 RCV003467005
dbSNP Id: rs62645924
gnomAD v2: 11-89018113-C-T
gnomAD v4: 11-89284945-C-T
MyVariant Identifiers: chr11:g.89018113C>T (hg19) chr11:g.89284945C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284945C>T , CM000673.2:g.89284945C>T GRCh38
NC_000011.9:g.89018113C>T , CM000673.1:g.89018113C>T GRCh37
NC_000011.8:g.88657761C>T NCBI36
NG_008748.1:g.112074C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1357C>T MANE Select ENSP00000263321.4:p.Gln453Ter
ENST00000263321.5:c.1357C>T ENSP00000263321.4:p.Gln453Ter
ENST00000528243.1:n.355C>T
NM_000372.4:c.1357C>T NP_000363.1:p.Gln453Ter
XM_011542970.1:c.1357C>T XP_011541272.1:p.Gln453Ter
XM_011542970.2:c.1357C>T XP_011541272.1:p.Gln453Ter
XR_001748321.1:n.2456+1089G>A
XR_001748322.1:n.2457+1089G>A
NM_000372.5:c.1357C>T MANE Select NP_000363.1:p.Gln453Ter
Search 100 bp 5'
Search 100 bp 3'