Canonical Allele Identifier: CA382078119
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284918G>A , CM000673.2:g.89284918G>A GRCh38
NC_000011.9:g.89018086G>A , CM000673.1:g.89018086G>A GRCh37
NC_000011.8:g.88657734G>A NCBI36
NG_008748.1:g.112047G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1330G>A MANE Select ENSP00000263321.4:p.Asp444Asn
ENST00000263321.5:c.1330G>A ENSP00000263321.4:p.Asp444Asn
ENST00000528243.1:n.328G>A
NM_000372.4:c.1330G>A NP_000363.1:p.Asp444Asn
XM_011542970.1:c.1330G>A XP_011541272.1:p.Asp444Asn
XM_011542970.2:c.1330G>A XP_011541272.1:p.Asp444Asn
XR_001748321.1:n.2456+1116C>T
XR_001748322.1:n.2457+1116C>T
NM_000372.5:c.1330G>A MANE Select NP_000363.1:p.Asp444Asn