Canonical Allele Identifier: CA226290914
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs985142970
gnomAD v2: 11-88912040-C-A
gnomAD v3: 11-89178872-C-A
gnomAD v4: 11-89178872-C-A
MyVariant Identifiers: chr11:g.88912040C>A (hg19) chr11:g.89178872C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178872C>A , CM000673.2:g.89178872C>A GRCh38
NC_000011.9:g.88912040C>A , CM000673.1:g.88912040C>A GRCh37
NC_000011.8:g.88551688C>A NCBI36
NG_008748.1:g.6001C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+100C>A MANE Select ENSP00000263321.4:n.819+100C>A
ENST00000263321.5:c.819+100C>A ENSP00000263321.4:n.819+100C>A
ENST00000526139.1:n.880+100C>A
NM_000372.4:c.819+100C>A NP_000363.1:n.819+100C>A
XM_011542970.1:c.819+100C>A XP_011541272.1:n.819+100C>A
XM_011542970.2:c.819+100C>A XP_011541272.1:n.819+100C>A
XR_001748321.1:n.2718-65339G>T
XR_001748322.1:n.2733-65339G>T
NM_000372.5:c.819+100C>A MANE Select NP_000363.1:n.819+100C>A
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