Canonical Allele Identifier: CA6221065
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs544053015
ExAC: 11:88911357 C / T
gnomAD v2: 11-88911357-C-T
gnomAD v3: 11-89178189-C-T
gnomAD v4: 11-89178189-C-T
COSMIC: COSM1676366
MyVariant Identifiers: chr11:g.88911357C>T (hg19) chr11:g.89178189C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178189C>T , CM000673.2:g.89178189C>T GRCh38
NC_000011.9:g.88911357C>T , CM000673.1:g.88911357C>T GRCh37
NC_000011.8:g.88551005C>T NCBI36
NG_008748.1:g.5318C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.236C>T MANE Select ENSP00000263321.4:p.Ser79Leu
ENST00000263321.5:c.236C>T ENSP00000263321.4:p.Ser79Leu
ENST00000526139.1:n.297C>T
NM_000372.4:c.236C>T NP_000363.1:p.Ser79Leu
XM_011542970.1:c.236C>T XP_011541272.1:p.Ser79Leu
XM_011542970.2:c.236C>T XP_011541272.1:p.Ser79Leu
XR_001748321.1:n.2718-64656G>A
XR_001748322.1:n.2733-64656G>A
NM_000372.5:c.236C>T MANE Select NP_000363.1:p.Ser79Leu
Search 100 bp 5'
Search 100 bp 3'