Canonical Allele Identifier: CA601003318
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 3006707
ClinVar RCV Id: RCV003861322
dbSNP Id: rs1238844338
gnomAD v2: 11-89018134-T-C
gnomAD v4: 11-89284966-T-C
MyVariant Identifiers: chr11:g.89018134T>C (hg19) chr11:g.89284966T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284966T>C , CM000673.2:g.89284966T>C GRCh38
NC_000011.9:g.89018134T>C , CM000673.1:g.89018134T>C GRCh37
NC_000011.8:g.88657782T>C NCBI36
NG_008748.1:g.112095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+12T>C MANE Select ENSP00000263321.4:n.1366+12T>C
ENST00000263321.5:c.1366+12T>C ENSP00000263321.4:n.1366+12T>C
ENST00000528243.1:n.364+12T>C
NM_000372.4:c.1366+12T>C NP_000363.1:n.1366+12T>C
XM_011542970.1:c.1366+12T>C XP_011541272.1:n.1366+12T>C
XM_011542970.2:c.1366+12T>C XP_011541272.1:n.1366+12T>C
XR_001748321.1:n.2456+1068A>G
XR_001748322.1:n.2457+1068A>G
NM_000372.5:c.1366+12T>C MANE Select NP_000363.1:n.1366+12T>C
Search 100 bp 5'
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