Canonical Allele Identifier: CA6221208
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs763013244
ExAC: 11:88911973 G / T
gnomAD v2: 11-88911973-G-T
gnomAD v4: 11-89178805-G-T
MyVariant Identifiers: chr11:g.88911973G>T (hg19) chr11:g.89178805G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178805G>T , CM000673.2:g.89178805G>T GRCh38
NC_000011.9:g.88911973G>T , CM000673.1:g.88911973G>T GRCh37
NC_000011.8:g.88551621G>T NCBI36
NG_008748.1:g.5934G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+33G>T MANE Select ENSP00000263321.4:n.819+33G>T
ENST00000263321.5:c.819+33G>T ENSP00000263321.4:n.819+33G>T
ENST00000526139.1:n.880+33G>T
NM_000372.4:c.819+33G>T NP_000363.1:n.819+33G>T
XM_011542970.1:c.819+33G>T XP_011541272.1:n.819+33G>T
XM_011542970.2:c.819+33G>T XP_011541272.1:n.819+33G>T
XR_001748321.1:n.2718-65272C>A
XR_001748322.1:n.2733-65272C>A
NM_000372.5:c.819+33G>T MANE Select NP_000363.1:n.819+33G>T
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