Canonical Allele Identifier: CA476158968
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2821926
ClinVar RCV Id: RCV003711871
MyVariant Identifiers: chr11:g.88924453T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89191285T>C , CM000673.2:g.89191285T>C GRCh38
NC_000011.9:g.88924453T>C , CM000673.1:g.88924453T>C GRCh37
NC_000011.8:g.88564101T>C NCBI36
NG_008748.1:g.18414T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.903T>C MANE Select ENSP00000263321.4:p.Pro301=
ENST00000263321.5:c.903T>C ENSP00000263321.4:p.Pro301=
ENST00000526139.1:n.964T>C
NM_000372.4:c.903T>C NP_000363.1:p.Pro301=
XM_011542970.1:c.903T>C XP_011541272.1:p.Pro301=
XM_011542970.2:c.903T>C XP_011541272.1:p.Pro301=
XR_001748321.1:n.2718-77752A>G
XR_001748322.1:n.2733-77752A>G
NM_000372.5:c.903T>C MANE Select NP_000363.1:p.Pro301=
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