Canonical Allele Identifier: CA6221112

Gene: TYR

Linked Data

• ClinVar Variation Id: 883341
• ClinVar RCV Id: RCV001113663 ; RCV002069830 ; RCV001819824
• dbSNP Id: rs145513733
• ExAC: 11:88911575 C / T
• gnomAD v2: 11-88911575-C-T
• gnomAD v3: 11-89178407-C-T
• gnomAD v4: 11-89178407-C-T
• MyVariant Identifiers: chr11:g.88911575C>T (hg19) ; chr11:g.89178407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178407C>T , CM000673.2:g.89178407C>T	GRCh38
NC_000011.9:g.88911575C>T , CM000673.1:g.88911575C>T	GRCh37
NC_000011.8:g.88551223C>T	NCBI36
NG_008748.1:g.5536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.454C>T MANE Select	ENSP00000263321.4:p.Pro152Ser
ENST00000263321.5:c.454C>T	ENSP00000263321.4:p.Pro152Ser
ENST00000526139.1:n.515C>T
NM_000372.4:c.454C>T	NP_000363.1:p.Pro152Ser
XM_011542970.1:c.454C>T	XP_011541272.1:p.Pro152Ser
XM_011542970.2:c.454C>T	XP_011541272.1:p.Pro152Ser
XR_001748321.1:n.2718-64874G>A
XR_001748322.1:n.2733-64874G>A
NM_000372.5:c.454C>T MANE Select	NP_000363.1:p.Pro152Ser