Canonical Allele Identifier: CA6221355
Gene: TYR HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.89227932C>T
GRCh37 chr11:g.88961100C>T
gnomAD v2:
11:88961100 C / T
gnomAD v3:
11:89227932 C / T
gnomAD v4:
chr11-89227932-C-T
Joint Max Group AF 0.00039853 (SAS)
Exomes Max Group AF 0.00041059 (SAS)
ClinVar RCV:
RCV003838222
ClinVar Variation:
2974600
dbSNP:
104894315
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89227932C>T , CM000673.2:g.89227932C>T GRCh38
NC_000011.9:g.88961100C>T , CM000673.1:g.88961100C>T GRCh37
NC_000011.8:g.88600748C>T NCBI36
NG_008748.1:g.55061C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1146C>T MANE Select ENSP00000263321.4:p.Asn382=
ENST00000263321.5:c.1146C>T ENSP00000263321.4:p.Asn382=
NM_000372.4:c.1146C>T NP_000363.1:p.Asn382=
XM_011542970.1:c.1146C>T XP_011541272.1:p.Asn382=
XM_011542970.2:c.1146C>T XP_011541272.1:p.Asn382=
XR_001748321.1:n.2717+43528G>A
XR_001748322.1:n.2732+43528G>A
NM_000372.5:c.1146C>T MANE Select NP_000363.1:p.Asn382=
Search 100 bp 5'
Search 100 bp 3'