Canonical Allele Identifier: CA382034287
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178339C>G , CM000673.2:g.89178339C>G GRCh38
NC_000011.9:g.88911507C>G , CM000673.1:g.88911507C>G GRCh37
NC_000011.8:g.88551155C>G NCBI36
NG_008748.1:g.5468C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.386C>G MANE Select ENSP00000263321.4:p.Pro129Arg
ENST00000263321.5:c.386C>G ENSP00000263321.4:p.Pro129Arg
ENST00000526139.1:n.447C>G
NM_000372.4:c.386C>G NP_000363.1:p.Pro129Arg
XM_011542970.1:c.386C>G XP_011541272.1:p.Pro129Arg
XM_011542970.2:c.386C>G XP_011541272.1:p.Pro129Arg
XR_001748321.1:n.2718-64806G>C
XR_001748322.1:n.2733-64806G>C
NM_000372.5:c.386C>G MANE Select NP_000363.1:p.Pro129Arg