Canonical Allele Identifier: CA275917
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 190217
dbSNP Id: rs796051880

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89191284C>T , CM000673.2:g.89191284C>T GRCh38
NC_000011.9:g.88924452C>T , CM000673.1:g.88924452C>T GRCh37
NC_000011.8:g.88564100C>T NCBI36
NG_008748.1:g.18413C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.902C>T MANE Select ENSP00000263321.4:p.Pro301Leu
ENST00000263321.5:c.902C>T ENSP00000263321.4:p.Pro301Leu
ENST00000526139.1:n.963C>T
NM_000372.4:c.902C>T NP_000363.1:p.Pro301Leu
XM_011542970.1:c.902C>T XP_011541272.1:p.Pro301Leu
XM_011542970.2:c.902C>T XP_011541272.1:p.Pro301Leu
XR_001748321.1:n.2718-77751G>A
XR_001748322.1:n.2733-77751G>A
NM_000372.5:c.902C>T MANE Select NP_000363.1:p.Pro301Leu