Canonical Allele Identifier: CA601003316
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2984775
ClinVar RCV Id: RCV003845918
dbSNP Id: rs1200553541
gnomAD v2: 11-89018133-C-G
gnomAD v3: 11-89284965-C-G
gnomAD v4: 11-89284965-C-G
MyVariant Identifiers: chr11:g.89018133C>G (hg19) chr11:g.89284965C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284965C>G , CM000673.2:g.89284965C>G GRCh38
NC_000011.9:g.89018133C>G , CM000673.1:g.89018133C>G GRCh37
NC_000011.8:g.88657781C>G NCBI36
NG_008748.1:g.112094C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+11C>G MANE Select ENSP00000263321.4:n.1366+11C>G
ENST00000263321.5:c.1366+11C>G ENSP00000263321.4:n.1366+11C>G
ENST00000528243.1:n.364+11C>G
NM_000372.4:c.1366+11C>G NP_000363.1:n.1366+11C>G
XM_011542970.1:c.1366+11C>G XP_011541272.1:n.1366+11C>G
XM_011542970.2:c.1366+11C>G XP_011541272.1:n.1366+11C>G
XR_001748321.1:n.2456+1069G>C
XR_001748322.1:n.2457+1069G>C
NM_000372.5:c.1366+11C>G MANE Select NP_000363.1:n.1366+11C>G
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