Canonical Allele Identifier: CA6221261

Gene: TYR

Linked Data

• ClinVar Variation Id: 418532
• ClinVar RCV Id: RCV000789027 ; RCV001109651 ; RCV000486643 ; RCV000765023 ; RCV003488627
• dbSNP Id: rs142170797
• ExAC: 11:88924465 C / A
• gnomAD v2: 11-88924465-C-A
• gnomAD v3: 11-89191297-C-A
• gnomAD v4: 11-89191297-C-A
• MyVariant Identifiers: chr11:g.88924465C>A (hg19) ; chr11:g.89191297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89191297C>A , CM000673.2:g.89191297C>A	GRCh38
NC_000011.9:g.88924465C>A , CM000673.1:g.88924465C>A	GRCh37
NC_000011.8:g.88564113C>A	NCBI36
NG_008748.1:g.18426C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.915C>A MANE Select	ENSP00000263321.4:p.Asp305Glu
ENST00000263321.5:c.915C>A	ENSP00000263321.4:p.Asp305Glu
ENST00000526139.1:n.976C>A
NM_000372.4:c.915C>A	NP_000363.1:p.Asp305Glu
XM_011542970.1:c.915C>A	XP_011541272.1:p.Asp305Glu
XM_011542970.2:c.915C>A	XP_011541272.1:p.Asp305Glu
XR_001748321.1:n.2718-77764G>T
XR_001748322.1:n.2733-77764G>T
NM_000372.5:c.915C>A MANE Select	NP_000363.1:p.Asp305Glu