Canonical Allele Identifier: CA382034200
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178300G>T , CM000673.2:g.89178300G>T GRCh38
NC_000011.9:g.88911468G>T , CM000673.1:g.88911468G>T GRCh37
NC_000011.8:g.88551116G>T NCBI36
NG_008748.1:g.5429G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.347G>T MANE Select ENSP00000263321.4:p.Arg116Leu
ENST00000263321.5:c.347G>T ENSP00000263321.4:p.Arg116Leu
ENST00000526139.1:n.408G>T
NM_000372.4:c.347G>T NP_000363.1:p.Arg116Leu
XM_011542970.1:c.347G>T XP_011541272.1:p.Arg116Leu
XM_011542970.2:c.347G>T XP_011541272.1:p.Arg116Leu
XR_001748321.1:n.2718-64767C>A
XR_001748322.1:n.2733-64767C>A
NM_000372.5:c.347G>T MANE Select NP_000363.1:p.Arg116Leu