Canonical Allele Identifier: CA2615484150
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89284719-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284719T>C , CM000673.2:g.89284719T>C GRCh38
NC_000011.9:g.89017887T>C , CM000673.1:g.89017887T>C GRCh37
NC_000011.8:g.88657535T>C NCBI36
NG_008748.1:g.111848T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1185-54T>C MANE Select ENSP00000263321.4:n.1185-54T>C
ENST00000263321.5:c.1185-54T>C ENSP00000263321.4:n.1185-54T>C
ENST00000528243.1:n.183-54T>C
NM_000372.4:c.1185-54T>C NP_000363.1:n.1185-54T>C
XM_011542970.1:c.1185-54T>C XP_011541272.1:n.1185-54T>C
XM_011542970.2:c.1185-54T>C XP_011541272.1:n.1185-54T>C
XR_001748321.1:n.2456+1315A>G
XR_001748322.1:n.2457+1315A>G
NM_000372.5:c.1185-54T>C MANE Select NP_000363.1:n.1185-54T>C
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