Canonical Allele Identifier: CA382035245
Gene: TYR HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.88911857A>C (hg19) chr11:g.89178689A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.736A>C MANE Select ENSP00000263321.4:p.Ile246Leu
ENST00000263321.5:c.736A>C ENSP00000263321.4:p.Ile246Leu
ENST00000526139.1:n.797A>C
NM_000372.4:c.736A>C NP_000363.1:p.Ile246Leu
XM_011542970.1:c.736A>C XP_011541272.1:p.Ile246Leu
XM_011542970.2:c.736A>C XP_011541272.1:p.Ile246Leu
XR_001748321.1:n.2718-65156T>G
XR_001748322.1:n.2733-65156T>G
NM_000372.5:c.736A>C MANE Select NP_000363.1:p.Ile246Leu
Search 100 bp 5'
Search 100 bp 3'