Canonical Allele Identifier: CA382035246
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178689A>G , CM000673.2:g.89178689A>G GRCh38
NC_000011.9:g.88911857A>G , CM000673.1:g.88911857A>G GRCh37
NC_000011.8:g.88551505A>G NCBI36
NG_008748.1:g.5818A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.736A>G MANE Select ENSP00000263321.4:p.Ile246Val
ENST00000263321.5:c.736A>G ENSP00000263321.4:p.Ile246Val
ENST00000526139.1:n.797A>G
NM_000372.4:c.736A>G NP_000363.1:p.Ile246Val
XM_011542970.1:c.736A>G XP_011541272.1:p.Ile246Val
XM_011542970.2:c.736A>G XP_011541272.1:p.Ile246Val
XR_001748321.1:n.2718-65156T>C
XR_001748322.1:n.2733-65156T>C
NM_000372.5:c.736A>G MANE Select NP_000363.1:p.Ile246Val