Canonical Allele Identifier: CA2600774092
Gene: TYR HGNC NCBI

Linked Data

gnomAD v3: 11-89284724-C-A
gnomAD v4: 11-89284724-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284724C>A , CM000673.2:g.89284724C>A GRCh38
NC_000011.9:g.89017892C>A , CM000673.1:g.89017892C>A GRCh37
NC_000011.8:g.88657540C>A NCBI36
NG_008748.1:g.111853C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1185-49C>A MANE Select ENSP00000263321.4:n.1185-49C>A
ENST00000263321.5:c.1185-49C>A ENSP00000263321.4:n.1185-49C>A
ENST00000528243.1:n.183-49C>A
NM_000372.4:c.1185-49C>A NP_000363.1:n.1185-49C>A
XM_011542970.1:c.1185-49C>A XP_011541272.1:n.1185-49C>A
XM_011542970.2:c.1185-49C>A XP_011541272.1:n.1185-49C>A
XR_001748321.1:n.2456+1310G>T
XR_001748322.1:n.2457+1310G>T
NM_000372.5:c.1185-49C>A MANE Select NP_000363.1:n.1185-49C>A
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