Canonical Allele Identifier: CA940690317
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1944767389
gnomAD v3: 11-89285025-C-T
gnomAD v4: 11-89285025-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285025C>T , CM000673.2:g.89285025C>T GRCh38
NC_000011.9:g.89018193C>T , CM000673.1:g.89018193C>T GRCh37
NC_000011.8:g.88657841C>T NCBI36
NG_008748.1:g.112154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+71C>T MANE Select ENSP00000263321.4:n.1366+71C>T
ENST00000263321.5:c.1366+71C>T ENSP00000263321.4:n.1366+71C>T
ENST00000528243.1:n.364+71C>T
NM_000372.4:c.1366+71C>T NP_000363.1:n.1366+71C>T
XM_011542970.1:c.1366+71C>T XP_011541272.1:n.1366+71C>T
XM_011542970.2:c.1366+71C>T XP_011541272.1:n.1366+71C>T
XR_001748321.1:n.2456+1009G>A
XR_001748322.1:n.2457+1009G>A
NM_000372.5:c.1366+71C>T MANE Select NP_000363.1:n.1366+71C>T
Search 100 bp 5'
Search 100 bp 3'