Canonical Allele Identifier: CA2574945828
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89284693-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284693C>T , CM000673.2:g.89284693C>T GRCh38
NC_000011.9:g.89017861C>T , CM000673.1:g.89017861C>T GRCh37
NC_000011.8:g.88657509C>T NCBI36
NG_008748.1:g.111822C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1185-80C>T MANE Select ENSP00000263321.4:n.1185-80C>T
ENST00000263321.5:c.1185-80C>T ENSP00000263321.4:n.1185-80C>T
ENST00000528243.1:n.183-80C>T
NM_000372.4:c.1185-80C>T NP_000363.1:n.1185-80C>T
XM_011542970.1:c.1185-80C>T XP_011541272.1:n.1185-80C>T
XM_011542970.2:c.1185-80C>T XP_011541272.1:n.1185-80C>T
XR_001748321.1:n.2456+1341G>A
XR_001748322.1:n.2457+1341G>A
NM_000372.5:c.1185-80C>T MANE Select NP_000363.1:n.1185-80C>T
Search 100 bp 5'
Search 100 bp 3'