Canonical Allele Identifier: CA476321097

Gene: TYR

Linked Data

• ClinVar Variation Id: 2848425
• ClinVar RCV Id: RCV003693251
• gnomAD v4: 11-89284938-C-T
• MyVariant Identifiers: chr11:g.89018106C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284938C>T , CM000673.2:g.89284938C>T	GRCh38
NC_000011.9:g.89018106C>T , CM000673.1:g.89018106C>T	GRCh37
NC_000011.8:g.88657754C>T	NCBI36
NG_008748.1:g.112067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1350C>T MANE Select	ENSP00000263321.4:p.Ser450=
ENST00000263321.5:c.1350C>T	ENSP00000263321.4:p.Ser450=
ENST00000528243.1:n.348C>T
NM_000372.4:c.1350C>T	NP_000363.1:p.Ser450=
XM_011542970.1:c.1350C>T	XP_011541272.1:p.Ser450=
XM_011542970.2:c.1350C>T	XP_011541272.1:p.Ser450=
XR_001748321.1:n.2456+1096G>A
XR_001748322.1:n.2457+1096G>A
NM_000372.5:c.1350C>T MANE Select	NP_000363.1:p.Ser450=