Canonical Allele Identifier: CA382035309
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1494654
ClinVar RCV Id: RCV001989508
dbSNP Id: rs1419970240
gnomAD v2: 11-88911871-G-C
gnomAD v4: 11-89178703-G-C
MyVariant Identifiers: chr11:g.88911871G>C (hg19) chr11:g.89178703G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178703G>C , CM000673.2:g.89178703G>C GRCh38
NC_000011.9:g.88911871G>C , CM000673.1:g.88911871G>C GRCh37
NC_000011.8:g.88551519G>C NCBI36
NG_008748.1:g.5832G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.750G>C MANE Select ENSP00000263321.4:p.Glu250Asp
ENST00000263321.5:c.750G>C ENSP00000263321.4:p.Glu250Asp
ENST00000526139.1:n.811G>C
NM_000372.4:c.750G>C NP_000363.1:p.Glu250Asp
XM_011542970.1:c.750G>C XP_011541272.1:p.Glu250Asp
XM_011542970.2:c.750G>C XP_011541272.1:p.Glu250Asp
XR_001748321.1:n.2718-65170C>G
XR_001748322.1:n.2733-65170C>G
NM_000372.5:c.750G>C MANE Select NP_000363.1:p.Glu250Asp
Search 100 bp 5'
Search 100 bp 3'