Canonical Allele Identifier: CA382033885
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178195C>A , CM000673.2:g.89178195C>A GRCh38
NC_000011.9:g.88911363C>A , CM000673.1:g.88911363C>A GRCh37
NC_000011.8:g.88551011C>A NCBI36
NG_008748.1:g.5324C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.242C>A MANE Select ENSP00000263321.4:p.Pro81His
ENST00000263321.5:c.242C>A ENSP00000263321.4:p.Pro81His
ENST00000526139.1:n.303C>A
NM_000372.4:c.242C>A NP_000363.1:p.Pro81His
XM_011542970.1:c.242C>A XP_011541272.1:p.Pro81His
XM_011542970.2:c.242C>A XP_011541272.1:p.Pro81His
XR_001748321.1:n.2718-64662G>T
XR_001748322.1:n.2733-64662G>T
NM_000372.5:c.242C>A MANE Select NP_000363.1:p.Pro81His