Canonical Allele Identifier: CA227586
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 3787
ClinVar RCV Id: RCV000003990 RCV000085968 RCV003460417
dbSNP Id: rs61754368
ExAC: 11:88911849 AGT / A
gnomAD v2: 11-88911849-AGT-A
gnomAD v3: 11-89178681-AGT-A
gnomAD v4: 11-89178681-AGT-A
COSMIC: COSM1684285
MyVariant Identifiers: chr11:g.88911853_88911854del (hg19) chr11:g.88911850_88911851del (hg19) chr11:g.89178685_89178686del (hg38) chr11:g.89178682_89178683del (hg38)
PubMed: PMID:1905879 PMID:23891399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178685_89178686del , CM000673.2:g.89178685_89178686del GRCh38
NC_000011.9:g.88911853_88911854del , CM000673.1:g.88911853_88911854del GRCh37
NC_000011.8:g.88551501_88551502del NCBI36
NG_008748.1:g.5814_5815del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.732_733del MANE Select ENSP00000263321.4:p.Cys244Ter
ENST00000263321.5:c.732_733del ENSP00000263321.4:p.Cys244Ter
ENST00000526139.1:n.793_794del
NM_000372.4:c.732_733del NP_000363.1:p.Cys244Ter
XM_011542970.1:c.732_733del XP_011541272.1:p.Cys244Ter
XM_011542970.2:c.732_733del XP_011541272.1:p.Cys244Ter
XR_001748321.1:n.2718-65150_2718-65149del
XR_001748322.1:n.2733-65150_2733-65149del
NM_000372.5:c.732_733del MANE Select NP_000363.1:p.Cys244Ter
Search 100 bp 5'
Search 100 bp 3'