Canonical Allele Identifier: CA382034214
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1368181
ClinVar RCV Id: RCV001894582
dbSNP Id: rs2135242140
MyVariant Identifiers: chr11:g.88911476G>T (hg19) chr11:g.89178308G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178308G>T , CM000673.2:g.89178308G>T GRCh38
NC_000011.9:g.88911476G>T , CM000673.1:g.88911476G>T GRCh37
NC_000011.8:g.88551124G>T NCBI36
NG_008748.1:g.5437G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.355G>T MANE Select ENSP00000263321.4:p.Val119Leu
ENST00000263321.5:c.355G>T ENSP00000263321.4:p.Val119Leu
ENST00000526139.1:n.416G>T
NM_000372.4:c.355G>T NP_000363.1:p.Val119Leu
XM_011542970.1:c.355G>T XP_011541272.1:p.Val119Leu
XM_011542970.2:c.355G>T XP_011541272.1:p.Val119Leu
XR_001748321.1:n.2718-64775C>A
XR_001748322.1:n.2733-64775C>A
NM_000372.5:c.355G>T MANE Select NP_000363.1:p.Val119Leu
Search 100 bp 5'
Search 100 bp 3'