Canonical Allele Identifier: CA476158947
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2095467
ClinVar RCV Id: RCV003013808
MyVariant Identifiers: chr11:g.88911802A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178634A>G , CM000673.2:g.89178634A>G GRCh38
NC_000011.9:g.88911802A>G , CM000673.1:g.88911802A>G GRCh37
NC_000011.8:g.88551450A>G NCBI36
NG_008748.1:g.5763A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.681A>G MANE Select ENSP00000263321.4:p.Gly227=
ENST00000263321.5:c.681A>G ENSP00000263321.4:p.Gly227=
ENST00000526139.1:n.742A>G
NM_000372.4:c.681A>G NP_000363.1:p.Gly227=
XM_011542970.1:c.681A>G XP_011541272.1:p.Gly227=
XM_011542970.2:c.681A>G XP_011541272.1:p.Gly227=
XR_001748321.1:n.2718-65101T>C
XR_001748322.1:n.2733-65101T>C
NM_000372.5:c.681A>G MANE Select NP_000363.1:p.Gly227=