Canonical Allele Identifier: CA6221172
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1621915
ClinVar RCV Id: RCV002101960
dbSNP Id: rs138817690

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178658T>C , CM000673.2:g.89178658T>C GRCh38
NC_000011.9:g.88911826T>C , CM000673.1:g.88911826T>C GRCh37
NC_000011.8:g.88551474T>C NCBI36
NG_008748.1:g.5787T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.705T>C MANE Select ENSP00000263321.4:p.Tyr235=
ENST00000263321.5:c.705T>C ENSP00000263321.4:p.Tyr235=
ENST00000526139.1:n.766T>C
NM_000372.4:c.705T>C NP_000363.1:p.Tyr235=
XM_011542970.1:c.705T>C XP_011541272.1:p.Tyr235=
XM_011542970.2:c.705T>C XP_011541272.1:p.Tyr235=
XR_001748321.1:n.2718-65125A>G
XR_001748322.1:n.2733-65125A>G
NM_000372.5:c.705T>C MANE Select NP_000363.1:p.Tyr235=