Canonical Allele Identifier: CA382035682
Gene: TYR HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.89191205G>A
GRCh37 chr11:g.88924373G>A
Revel Score:
ENST00000263321 (MANE Select) 0.324
gnomAD v2:
11:88924373 G / A
gnomAD v4:
chr11-89191205-G-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar Allele:
3885656
ClinVar RCV:
RCV005241169
ClinVar Variation:
3769503
dbSNP:
104894314
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89191205G>A , CM000673.2:g.89191205G>A GRCh38
NC_000011.9:g.88924373G>A , CM000673.1:g.88924373G>A GRCh37
NC_000011.8:g.88564021G>A NCBI36
NG_008748.1:g.18334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.823G>A MANE Select ENSP00000263321.4:p.Val275Ile
ENST00000263321.5:c.823G>A ENSP00000263321.4:p.Val275Ile
ENST00000526139.1:n.884G>A
NM_000372.4:c.823G>A NP_000363.1:p.Val275Ile
XM_011542970.1:c.823G>A XP_011541272.1:p.Val275Ile
XM_011542970.2:c.823G>A XP_011541272.1:p.Val275Ile
XR_001748321.1:n.2718-77672C>T
XR_001748322.1:n.2733-77672C>T
NM_000372.5:c.823G>A MANE Select NP_000363.1:p.Val275Ile
Search 100 bp 5'
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