Canonical Allele Identifier: CA6221410
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1500300
ClinVar RCV Id: RCV002015538
dbSNP Id: rs753195354

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284931A>G , CM000673.2:g.89284931A>G GRCh38
NC_000011.9:g.89018099A>G , CM000673.1:g.89018099A>G GRCh37
NC_000011.8:g.88657747A>G NCBI36
NG_008748.1:g.112060A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1343A>G MANE Select ENSP00000263321.4:p.Asp448Gly
ENST00000263321.5:c.1343A>G ENSP00000263321.4:p.Asp448Gly
ENST00000528243.1:n.341A>G
NM_000372.4:c.1343A>G NP_000363.1:p.Asp448Gly
XM_011542970.1:c.1343A>G XP_011541272.1:p.Asp448Gly
XM_011542970.2:c.1343A>G XP_011541272.1:p.Asp448Gly
XR_001748321.1:n.2456+1103T>C
XR_001748322.1:n.2457+1103T>C
NM_000372.5:c.1343A>G MANE Select NP_000363.1:p.Asp448Gly