Canonical Allele Identifier: CA227506
Gene: TYR HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.89227932C>A
GRCh37 chr11:g.88961100C>A
Revel Score:
ENST00000263321 (MANE Select) 0.703
gnomAD v2:
11:88961100 C / A
gnomAD v4:
chr11-89227932-C-A
Joint Max Group AF 0.00002989 (NFE)
Exomes Max Group AF 0.00003172 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89227932C>A , CM000673.2:g.89227932C>A GRCh38
NC_000011.9:g.88961100C>A , CM000673.1:g.88961100C>A GRCh37
NC_000011.8:g.88600748C>A NCBI36
NG_008748.1:g.55061C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1146C>A MANE Select ENSP00000263321.4:p.Asn382Lys
ENST00000263321.5:c.1146C>A ENSP00000263321.4:p.Asn382Lys
NM_000372.4:c.1146C>A NP_000363.1:p.Asn382Lys
XM_011542970.1:c.1146C>A XP_011541272.1:p.Asn382Lys
XM_011542970.2:c.1146C>A XP_011541272.1:p.Asn382Lys
XR_001748321.1:n.2717+43528G>T
XR_001748322.1:n.2732+43528G>T
NM_000372.5:c.1146C>A MANE Select NP_000363.1:p.Asn382Lys
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