Canonical Allele Identifier: CA15685429
Gene: TYR HGNC NCBI
COSMIC:
COSN17596356 (not active)
MyVariant.info:
GRCh38 chr11:g.89272085A>C
GRCh37 chr11:g.89005253A>C
gnomAD v2:
11:89005253 A / C
gnomAD v3:
11:89272085 A / C
gnomAD v4:
chr11-89272085-A-C
Joint Max Group AF 0.30973775 (NFE)
Genomes Max Group AF 0.30973775 (NFE)
dbSNP:
1847134
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89272085A>C , CM000673.2:g.89272085A>C GRCh38
NC_000011.9:g.89005253A>C , CM000673.1:g.89005253A>C GRCh37
NC_000011.8:g.88644901A>C NCBI36
NG_008748.1:g.99214A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1185-12688A>C MANE Select ENSP00000263321.4:n.1185-12688A>C
ENST00000263321.5:c.1185-12688A>C ENSP00000263321.4:n.1185-12688A>C
NM_000372.4:c.1185-12688A>C NP_000363.1:n.1185-12688A>C
XM_011542970.1:c.1185-12688A>C XP_011541272.1:n.1185-12688A>C
XM_011542970.2:c.1185-12688A>C XP_011541272.1:n.1185-12688A>C
XR_001748321.1:n.2551-459T>G
XR_001748322.1:n.2566-459T>G
NM_000372.5:c.1185-12688A>C MANE Select NP_000363.1:n.1185-12688A>C
Search 100 bp 5'
Search 100 bp 3'