Canonical Allele Identifier: CA382033878

Gene: TYR

Linked Data

• ClinVar Variation Id: 3028902
• ClinVar RCV Id: RCV003890766
• MyVariant Identifiers: chr11:g.88911361G>C (hg19) ; chr11:g.89178193G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178193G>C , CM000673.2:g.89178193G>C	GRCh38
NC_000011.9:g.88911361G>C , CM000673.1:g.88911361G>C	GRCh37
NC_000011.8:g.88551009G>C	NCBI36
NG_008748.1:g.5322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.240G>C MANE Select	ENSP00000263321.4:p.Trp80Cys
ENST00000263321.5:c.240G>C	ENSP00000263321.4:p.Trp80Cys
ENST00000526139.1:n.301G>C
NM_000372.4:c.240G>C	NP_000363.1:p.Trp80Cys
XM_011542970.1:c.240G>C	XP_011541272.1:p.Trp80Cys
XM_011542970.2:c.240G>C	XP_011541272.1:p.Trp80Cys
XR_001748321.1:n.2718-64660C>G
XR_001748322.1:n.2733-64660C>G
NM_000372.5:c.240G>C MANE Select	NP_000363.1:p.Trp80Cys