Canonical Allele Identifier: CA382033965
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1433302
ClinVar RCV Id: RCV001960069
dbSNP Id: rs1464099781

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178211T>G , CM000673.2:g.89178211T>G GRCh38
NC_000011.9:g.88911379T>G , CM000673.1:g.88911379T>G GRCh37
NC_000011.8:g.88551027T>G NCBI36
NG_008748.1:g.5340T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.258T>G MANE Select ENSP00000263321.4:p.Asn86Lys
ENST00000263321.5:c.258T>G ENSP00000263321.4:p.Asn86Lys
ENST00000526139.1:n.319T>G
NM_000372.4:c.258T>G NP_000363.1:p.Asn86Lys
XM_011542970.1:c.258T>G XP_011541272.1:p.Asn86Lys
XM_011542970.2:c.258T>G XP_011541272.1:p.Asn86Lys
XR_001748321.1:n.2718-64678A>C
XR_001748322.1:n.2733-64678A>C
NM_000372.5:c.258T>G MANE Select NP_000363.1:p.Asn86Lys