Canonical Allele Identifier: CA6221384

Gene: TYR

Linked Data

• ClinVar Variation Id: 2980177
• ClinVar RCV Id: RCV003837351
• dbSNP Id: rs553655863
• ExAC: 11:89017980 A / G
• gnomAD v2: 11-89017980-A-G
• gnomAD v3: 11-89284812-A-G
• gnomAD v4: 11-89284812-A-G
• MyVariant Identifiers: chr11:g.89017980A>G (hg19) ; chr11:g.89284812A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284812A>G , CM000673.2:g.89284812A>G	GRCh38
NC_000011.9:g.89017980A>G , CM000673.1:g.89017980A>G	GRCh37
NC_000011.8:g.88657628A>G	NCBI36
NG_008748.1:g.111941A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1224A>G MANE Select	ENSP00000263321.4:p.Gln408=
ENST00000263321.5:c.1224A>G	ENSP00000263321.4:p.Gln408=
ENST00000528243.1:n.222A>G
NM_000372.4:c.1224A>G	NP_000363.1:p.Gln408=
XM_011542970.1:c.1224A>G	XP_011541272.1:p.Gln408=
XM_011542970.2:c.1224A>G	XP_011541272.1:p.Gln408=
XR_001748321.1:n.2456+1222T>C
XR_001748322.1:n.2457+1222T>C
NM_000372.5:c.1224A>G MANE Select	NP_000363.1:p.Gln408=