Canonical Allele Identifier: CA382035349
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178709G>C , CM000673.2:g.89178709G>C GRCh38
NC_000011.9:g.88911877G>C , CM000673.1:g.88911877G>C GRCh37
NC_000011.8:g.88551525G>C NCBI36
NG_008748.1:g.5838G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.756G>C MANE Select ENSP00000263321.4:p.Met252Ile
ENST00000263321.5:c.756G>C ENSP00000263321.4:p.Met252Ile
ENST00000526139.1:n.817G>C
NM_000372.4:c.756G>C NP_000363.1:p.Met252Ile
XM_011542970.1:c.756G>C XP_011541272.1:p.Met252Ile
XM_011542970.2:c.756G>C XP_011541272.1:p.Met252Ile
XR_001748321.1:n.2718-65176C>G
XR_001748322.1:n.2733-65176C>G
NM_000372.5:c.756G>C MANE Select NP_000363.1:p.Met252Ile