Canonical Allele Identifier: CA6221088
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs780520175
ExAC: 11:88911452 A / C
gnomAD v2: 11-88911452-A-C
gnomAD v3: 11-89178284-A-C
gnomAD v4: 11-89178284-A-C
MyVariant Identifiers: chr11:g.88911452A>C (hg19) chr11:g.89178284A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178284A>C , CM000673.2:g.89178284A>C GRCh38
NC_000011.9:g.88911452A>C , CM000673.1:g.88911452A>C GRCh37
NC_000011.8:g.88551100A>C NCBI36
NG_008748.1:g.5413A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.331A>C MANE Select ENSP00000263321.4:p.Asn111His
ENST00000263321.5:c.331A>C ENSP00000263321.4:p.Asn111His
ENST00000526139.1:n.392A>C
NM_000372.4:c.331A>C NP_000363.1:p.Asn111His
XM_011542970.1:c.331A>C XP_011541272.1:p.Asn111His
XM_011542970.2:c.331A>C XP_011541272.1:p.Asn111His
XR_001748321.1:n.2718-64751T>G
XR_001748322.1:n.2733-64751T>G
NM_000372.5:c.331A>C MANE Select NP_000363.1:p.Asn111His
Search 100 bp 5'
Search 100 bp 3'