Canonical Allele Identifier: CA601003330
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1343019761
gnomAD v2: 11-89018311-G-A
gnomAD v3: 11-89285143-G-A
gnomAD v4: 11-89285143-G-A
MyVariant Identifiers: chr11:g.89018311G>A (hg19) chr11:g.89285143G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285143G>A , CM000673.2:g.89285143G>A GRCh38
NC_000011.9:g.89018311G>A , CM000673.1:g.89018311G>A GRCh37
NC_000011.8:g.88657959G>A NCBI36
NG_008748.1:g.112272G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+189G>A MANE Select ENSP00000263321.4:n.1366+189G>A
ENST00000263321.5:c.1366+189G>A ENSP00000263321.4:n.1366+189G>A
ENST00000528243.1:n.364+189G>A
NM_000372.4:c.1366+189G>A NP_000363.1:n.1366+189G>A
XM_011542970.1:c.1366+189G>A XP_011541272.1:n.1366+189G>A
XM_011542970.2:c.1366+189G>A XP_011541272.1:n.1366+189G>A
XR_001748321.1:n.2456+891C>T
XR_001748322.1:n.2457+891C>T
NM_000372.5:c.1366+189G>A MANE Select NP_000363.1:n.1366+189G>A
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