Canonical Allele Identifier: CA2600773203
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs2135242840
gnomAD v3: 11-89178828-C-A
gnomAD v4: 11-89178828-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178828C>A , CM000673.2:g.89178828C>A GRCh38
NC_000011.9:g.88911996C>A , CM000673.1:g.88911996C>A GRCh37
NC_000011.8:g.88551644C>A NCBI36
NG_008748.1:g.5957C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+56C>A MANE Select ENSP00000263321.4:n.819+56C>A
ENST00000263321.5:c.819+56C>A ENSP00000263321.4:n.819+56C>A
ENST00000526139.1:n.880+56C>A
NM_000372.4:c.819+56C>A NP_000363.1:n.819+56C>A
XM_011542970.1:c.819+56C>A XP_011541272.1:n.819+56C>A
XM_011542970.2:c.819+56C>A XP_011541272.1:n.819+56C>A
XR_001748321.1:n.2718-65295G>T
XR_001748322.1:n.2733-65295G>T
NM_000372.5:c.819+56C>A MANE Select NP_000363.1:n.819+56C>A
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