Canonical Allele Identifier: CA6221210
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs751422747
ExAC: 11:88911981 C / T
gnomAD v2: 11-88911981-C-T
gnomAD v3: 11-89178813-C-T
gnomAD v4: 11-89178813-C-T
MyVariant Identifiers: chr11:g.88911981C>T (hg19) chr11:g.89178813C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178813C>T , CM000673.2:g.89178813C>T GRCh38
NC_000011.9:g.88911981C>T , CM000673.1:g.88911981C>T GRCh37
NC_000011.8:g.88551629C>T NCBI36
NG_008748.1:g.5942C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+41C>T MANE Select ENSP00000263321.4:n.819+41C>T
ENST00000263321.5:c.819+41C>T ENSP00000263321.4:n.819+41C>T
ENST00000526139.1:n.880+41C>T
NM_000372.4:c.819+41C>T NP_000363.1:n.819+41C>T
XM_011542970.1:c.819+41C>T XP_011541272.1:n.819+41C>T
XM_011542970.2:c.819+41C>T XP_011541272.1:n.819+41C>T
XR_001748321.1:n.2718-65280G>A
XR_001748322.1:n.2733-65280G>A
NM_000372.5:c.819+41C>T MANE Select NP_000363.1:n.819+41C>T
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