Canonical Allele Identifier: CA681530768
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1203398208
MyVariant Identifiers: chr11:g.89018339G>C (hg19) chr11:g.89285171G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285171G>C , CM000673.2:g.89285171G>C GRCh38
NC_000011.9:g.89018339G>C , CM000673.1:g.89018339G>C GRCh37
NC_000011.8:g.88657987G>C NCBI36
NG_008748.1:g.112300G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+217G>C MANE Select ENSP00000263321.4:n.1366+217G>C
ENST00000263321.5:c.1366+217G>C ENSP00000263321.4:n.1366+217G>C
ENST00000528243.1:n.364+217G>C
NM_000372.4:c.1366+217G>C NP_000363.1:n.1366+217G>C
XM_011542970.1:c.1366+217G>C XP_011541272.1:n.1366+217G>C
XM_011542970.2:c.1366+217G>C XP_011541272.1:n.1366+217G>C
XR_001748321.1:n.2456+863C>G
XR_001748322.1:n.2457+863C>G
NM_000372.5:c.1366+217G>C MANE Select NP_000363.1:n.1366+217G>C
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