Canonical Allele Identifier: CA382078163
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89284938-C-A
MyVariant Identifiers: chr11:g.89018106C>A (hg19) chr11:g.89284938C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284938C>A , CM000673.2:g.89284938C>A GRCh38
NC_000011.9:g.89018106C>A , CM000673.1:g.89018106C>A GRCh37
NC_000011.8:g.88657754C>A NCBI36
NG_008748.1:g.112067C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1350C>A MANE Select ENSP00000263321.4:p.Ser450Arg
ENST00000263321.5:c.1350C>A ENSP00000263321.4:p.Ser450Arg
ENST00000528243.1:n.348C>A
NM_000372.4:c.1350C>A NP_000363.1:p.Ser450Arg
XM_011542970.1:c.1350C>A XP_011541272.1:p.Ser450Arg
XM_011542970.2:c.1350C>A XP_011541272.1:p.Ser450Arg
XR_001748321.1:n.2456+1096G>T
XR_001748322.1:n.2457+1096G>T
NM_000372.5:c.1350C>A MANE Select NP_000363.1:p.Ser450Arg
Search 100 bp 5'
Search 100 bp 3'