Canonical Allele Identifier: CA2615470722
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89178916-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178916T>G , CM000673.2:g.89178916T>G GRCh38
NC_000011.9:g.88912084T>G , CM000673.1:g.88912084T>G GRCh37
NC_000011.8:g.88551732T>G NCBI36
NG_008748.1:g.6045T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+144T>G MANE Select ENSP00000263321.4:n.819+144T>G
ENST00000263321.5:c.819+144T>G ENSP00000263321.4:n.819+144T>G
ENST00000526139.1:n.880+144T>G
NM_000372.4:c.819+144T>G NP_000363.1:n.819+144T>G
XM_011542970.1:c.819+144T>G XP_011541272.1:n.819+144T>G
XM_011542970.2:c.819+144T>G XP_011541272.1:n.819+144T>G
XR_001748321.1:n.2718-65383A>C
XR_001748322.1:n.2733-65383A>C
NM_000372.5:c.819+144T>G MANE Select NP_000363.1:n.819+144T>G
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