Canonical Allele Identifier: CA6221373
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs753784338
ExAC: 11:89017914 T / C
gnomAD v2: 11-89017914-T-C
gnomAD v4: 11-89284746-T-C
MyVariant Identifiers: chr11:g.89017914T>C (hg19) chr11:g.89284746T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284746T>C , CM000673.2:g.89284746T>C GRCh38
NC_000011.9:g.89017914T>C , CM000673.1:g.89017914T>C GRCh37
NC_000011.8:g.88657562T>C NCBI36
NG_008748.1:g.111875T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1185-27T>C MANE Select ENSP00000263321.4:n.1185-27T>C
ENST00000263321.5:c.1185-27T>C ENSP00000263321.4:n.1185-27T>C
ENST00000528243.1:n.183-27T>C
NM_000372.4:c.1185-27T>C NP_000363.1:n.1185-27T>C
XM_011542970.1:c.1185-27T>C XP_011541272.1:n.1185-27T>C
XM_011542970.2:c.1185-27T>C XP_011541272.1:n.1185-27T>C
XR_001748321.1:n.2456+1288A>G
XR_001748322.1:n.2457+1288A>G
NM_000372.5:c.1185-27T>C MANE Select NP_000363.1:n.1185-27T>C
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