Canonical Allele Identifier: CA6221378
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1916271
ClinVar RCV Id: RCV002594454
dbSNP Id: rs763863353

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284773T>C , CM000673.2:g.89284773T>C GRCh38
NC_000011.9:g.89017941T>C , CM000673.1:g.89017941T>C GRCh37
NC_000011.8:g.88657589T>C NCBI36
NG_008748.1:g.111902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1185T>C MANE Select ENSP00000263321.4:p.Ser395=
ENST00000263321.5:c.1185T>C ENSP00000263321.4:p.Ser395=
ENST00000528243.1:n.183T>C
NM_000372.4:c.1185T>C NP_000363.1:p.Ser395=
XM_011542970.1:c.1185T>C XP_011541272.1:p.Ser395=
XM_011542970.2:c.1185T>C XP_011541272.1:p.Ser395=
XR_001748321.1:n.2456+1261A>G
XR_001748322.1:n.2457+1261A>G
NM_000372.5:c.1185T>C MANE Select NP_000363.1:p.Ser395=