Canonical Allele Identifier: CA382033858
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1444715
ClinVar RCV Id: RCV001982559
dbSNP Id: rs544053015
MyVariant Identifiers: chr11:g.88911357C>G (hg19) chr11:g.89178189C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178189C>G , CM000673.2:g.89178189C>G GRCh38
NC_000011.9:g.88911357C>G , CM000673.1:g.88911357C>G GRCh37
NC_000011.8:g.88551005C>G NCBI36
NG_008748.1:g.5318C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.236C>G MANE Select ENSP00000263321.4:p.Ser79Trp
ENST00000263321.5:c.236C>G ENSP00000263321.4:p.Ser79Trp
ENST00000526139.1:n.297C>G
NM_000372.4:c.236C>G NP_000363.1:p.Ser79Trp
XM_011542970.1:c.236C>G XP_011541272.1:p.Ser79Trp
XM_011542970.2:c.236C>G XP_011541272.1:p.Ser79Trp
XR_001748321.1:n.2718-64656G>C
XR_001748322.1:n.2733-64656G>C
NM_000372.5:c.236C>G MANE Select NP_000363.1:p.Ser79Trp
Search 100 bp 5'
Search 100 bp 3'