Canonical Allele Identifier: CA6221092
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs772122395
ExAC: 11:88911468 G / A
gnomAD v2: 11-88911468-G-A
gnomAD v3: 11-89178300-G-A
gnomAD v4: 11-89178300-G-A
MyVariant Identifiers: chr11:g.88911468G>A (hg19) chr11:g.89178300G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178300G>A , CM000673.2:g.89178300G>A GRCh38
NC_000011.9:g.88911468G>A , CM000673.1:g.88911468G>A GRCh37
NC_000011.8:g.88551116G>A NCBI36
NG_008748.1:g.5429G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.347G>A MANE Select ENSP00000263321.4:p.Arg116Gln
ENST00000263321.5:c.347G>A ENSP00000263321.4:p.Arg116Gln
ENST00000526139.1:n.408G>A
NM_000372.4:c.347G>A NP_000363.1:p.Arg116Gln
XM_011542970.1:c.347G>A XP_011541272.1:p.Arg116Gln
XM_011542970.2:c.347G>A XP_011541272.1:p.Arg116Gln
XR_001748321.1:n.2718-64767C>T
XR_001748322.1:n.2733-64767C>T
NM_000372.5:c.347G>A MANE Select NP_000363.1:p.Arg116Gln
Search 100 bp 5'
Search 100 bp 3'