Canonical Allele Identifier: CA2615484156
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89284739-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284739T>G , CM000673.2:g.89284739T>G GRCh38
NC_000011.9:g.89017907T>G , CM000673.1:g.89017907T>G GRCh37
NC_000011.8:g.88657555T>G NCBI36
NG_008748.1:g.111868T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1185-34T>G MANE Select ENSP00000263321.4:n.1185-34T>G
ENST00000263321.5:c.1185-34T>G ENSP00000263321.4:n.1185-34T>G
ENST00000528243.1:n.183-34T>G
NM_000372.4:c.1185-34T>G NP_000363.1:n.1185-34T>G
XM_011542970.1:c.1185-34T>G XP_011541272.1:n.1185-34T>G
XM_011542970.2:c.1185-34T>G XP_011541272.1:n.1185-34T>G
XR_001748321.1:n.2456+1295A>C
XR_001748322.1:n.2457+1295A>C
NM_000372.5:c.1185-34T>G MANE Select NP_000363.1:n.1185-34T>G
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