Canonical Allele Identifier: CA476157144
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2847521
ClinVar RCV Id: RCV003692811
MyVariant Identifiers: chr11:g.88911319G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178151G>C , CM000673.2:g.89178151G>C GRCh38
NC_000011.9:g.88911319G>C , CM000673.1:g.88911319G>C GRCh37
NC_000011.8:g.88550967G>C NCBI36
NG_008748.1:g.5280G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.198G>C MANE Select ENSP00000263321.4:p.Gly66=
ENST00000263321.5:c.198G>C ENSP00000263321.4:p.Gly66=
ENST00000526139.1:n.259G>C
NM_000372.4:c.198G>C NP_000363.1:p.Gly66=
XM_011542970.1:c.198G>C XP_011541272.1:p.Gly66=
XM_011542970.2:c.198G>C XP_011541272.1:p.Gly66=
XR_001748321.1:n.2718-64618C>G
XR_001748322.1:n.2733-64618C>G
NM_000372.5:c.198G>C MANE Select NP_000363.1:p.Gly66=