Canonical Allele Identifier: CA13424911
Gene: TYR HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.89294875T>G
GRCh37 chr11:g.89028043T>G
gnomAD v2:
11:89028043 T / G
gnomAD v3:
11:89294875 T / G
gnomAD v4:
chr11-89294875-T-G
Joint Max Group AF 0.30811761 (NFE)
Genomes Max Group AF 0.30811761 (NFE)
ClinVar RCV:
RCV001659315
ClinVar Variation:
1259078
dbSNP:
10830253
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89294875T>G , CM000673.2:g.89294875T>G GRCh38
NC_000011.9:g.89028043T>G , CM000673.1:g.89028043T>G GRCh37
NC_000011.8:g.88667691T>G NCBI36
NG_008748.1:g.122004T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1367-268T>G MANE Select ENSP00000263321.4:n.1367-268T>G
ENST00000263321.5:c.1367-268T>G ENSP00000263321.4:n.1367-268T>G
ENST00000528243.1:n.365-268T>G
NM_000372.4:c.1367-268T>G NP_000363.1:n.1367-268T>G
XM_011542970.1:c.*45-268T>G XP_011541272.1:n.*45-268T>G
XM_011542970.2:c.*45-268T>G XP_011541272.1:n.*45-268T>G
NM_000372.5:c.1367-268T>G MANE Select NP_000363.1:n.1367-268T>G
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