Canonical Allele Identifier: CA476157180
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89178202-C-G
MyVariant Identifiers: chr11:g.88911370C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178202C>G , CM000673.2:g.89178202C>G GRCh38
NC_000011.9:g.88911370C>G , CM000673.1:g.88911370C>G GRCh37
NC_000011.8:g.88551018C>G NCBI36
NG_008748.1:g.5331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.249C>G MANE Select ENSP00000263321.4:p.Val83=
ENST00000263321.5:c.249C>G ENSP00000263321.4:p.Val83=
ENST00000526139.1:n.310C>G
NM_000372.4:c.249C>G NP_000363.1:p.Val83=
XM_011542970.1:c.249C>G XP_011541272.1:p.Val83=
XM_011542970.2:c.249C>G XP_011541272.1:p.Val83=
XR_001748321.1:n.2718-64669G>C
XR_001748322.1:n.2733-64669G>C
NM_000372.5:c.249C>G MANE Select NP_000363.1:p.Val83=
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