Canonical Allele Identifier: CA382035077

Gene: TYR

Linked Data

• ClinVar Variation Id: 1392319
• ClinVar RCV Id: RCV001896157
• dbSNP Id: rs758115945
• MyVariant Identifiers: chr11:g.88911782G>T (hg19) ; chr11:g.89178614G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178614G>T , CM000673.2:g.89178614G>T	GRCh38
NC_000011.9:g.88911782G>T , CM000673.1:g.88911782G>T	GRCh37
NC_000011.8:g.88551430G>T	NCBI36
NG_008748.1:g.5743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.661G>T MANE Select	ENSP00000263321.4:p.Glu221Ter
ENST00000263321.5:c.661G>T	ENSP00000263321.4:p.Glu221Ter
ENST00000526139.1:n.722G>T
NM_000372.4:c.661G>T	NP_000363.1:p.Glu221Ter
XM_011542970.1:c.661G>T	XP_011541272.1:p.Glu221Ter
XM_011542970.2:c.661G>T	XP_011541272.1:p.Glu221Ter
XR_001748321.1:n.2718-65081C>A
XR_001748322.1:n.2733-65081C>A
NM_000372.5:c.661G>T MANE Select	NP_000363.1:p.Glu221Ter