Canonical Allele Identifier: CA382034438

Gene: TYR

Linked Data

• ClinVar Variation Id: 2130645
• ClinVar RCV Id: RCV003044632
• MyVariant Identifiers: chr11:g.88911576C>G (hg19) ; chr11:g.89178408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178408C>G , CM000673.2:g.89178408C>G	GRCh38
NC_000011.9:g.88911576C>G , CM000673.1:g.88911576C>G	GRCh37
NC_000011.8:g.88551224C>G	NCBI36
NG_008748.1:g.5537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.455C>G MANE Select	ENSP00000263321.4:p.Pro152Arg
ENST00000263321.5:c.455C>G	ENSP00000263321.4:p.Pro152Arg
ENST00000526139.1:n.516C>G
NM_000372.4:c.455C>G	NP_000363.1:p.Pro152Arg
XM_011542970.1:c.455C>G	XP_011541272.1:p.Pro152Arg
XM_011542970.2:c.455C>G	XP_011541272.1:p.Pro152Arg
XR_001748321.1:n.2718-64875G>C
XR_001748322.1:n.2733-64875G>C
NM_000372.5:c.455C>G MANE Select	NP_000363.1:p.Pro152Arg