Canonical Allele Identifier: CA227481
Gene: TYR HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.89177755C>A
GRCh37 chr11:g.88910923C>A
gnomAD v2:
11:88910923 C / A
gnomAD v3:
11:89177755 C / A
gnomAD v4:
chr11-89177755-C-A
Joint Max Group AF 0.2704707 (AFR)
Genomes Max Group AF 0.27038702 (AFR)
Exomes Max Group AF 0.26514985 (AFR)
ClinVar RCV:
RCV000003986
RCV000085882
ClinVar Variation:
3783
dbSNP:
1799989
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89177755C>A , CM000673.2:g.89177755C>A GRCh38
NC_000011.9:g.88910923C>A , CM000673.1:g.88910923C>A GRCh37
NC_000011.8:g.88550571C>A NCBI36
NG_008748.1:g.4884C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.5:c.-199C>A ENSP00000263321.4:n.-199C>A
XM_011542970.2:c.-199C>A XP_011541272.1:n.-199C>A
XR_001748321.1:n.2718-64222G>T
XR_001748322.1:n.2733-64222G>T
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