Canonical Allele Identifier: CA6221068
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1673066
ClinVar RCV Id: RCV002213563
dbSNP Id: rs139926589
ExAC: 11:88911367 C / T
gnomAD v2: 11-88911367-C-T
gnomAD v3: 11-89178199-C-T
gnomAD v4: 11-89178199-C-T
COSMIC: COSM1357652
MyVariant Identifiers: chr11:g.88911367C>T (hg19) chr11:g.89178199C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178199C>T , CM000673.2:g.89178199C>T GRCh38
NC_000011.9:g.88911367C>T , CM000673.1:g.88911367C>T GRCh37
NC_000011.8:g.88551015C>T NCBI36
NG_008748.1:g.5328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.246C>T MANE Select ENSP00000263321.4:p.Ser82=
ENST00000263321.5:c.246C>T ENSP00000263321.4:p.Ser82=
ENST00000526139.1:n.307C>T
NM_000372.4:c.246C>T NP_000363.1:p.Ser82=
XM_011542970.1:c.246C>T XP_011541272.1:p.Ser82=
XM_011542970.2:c.246C>T XP_011541272.1:p.Ser82=
XR_001748321.1:n.2718-64666G>A
XR_001748322.1:n.2733-64666G>A
NM_000372.5:c.246C>T MANE Select NP_000363.1:p.Ser82=
Search 100 bp 5'
Search 100 bp 3'