Canonical Allele Identifier: CA1989921626

Gene: TYR

Linked Data

• ClinVar Variation Id: 2699520
• ClinVar RCV Id: RCV003544646
• dbSNP Id: rs1943263875

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178789A>G , CM000673.2:g.89178789A>G	GRCh38
NC_000011.9:g.88911957A>G , CM000673.1:g.88911957A>G	GRCh37
NC_000011.8:g.88551605A>G	NCBI36
NG_008748.1:g.5918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.819+17A>G MANE Select	ENSP00000263321.4:n.819+17A>G
ENST00000263321.5:c.819+17A>G	ENSP00000263321.4:n.819+17A>G
ENST00000526139.1:n.880+17A>G
NM_000372.4:c.819+17A>G	NP_000363.1:n.819+17A>G
XM_011542970.1:c.819+17A>G	XP_011541272.1:n.819+17A>G
XM_011542970.2:c.819+17A>G	XP_011541272.1:n.819+17A>G
XR_001748321.1:n.2718-65256T>C
XR_001748322.1:n.2733-65256T>C
NM_000372.5:c.819+17A>G MANE Select	NP_000363.1:n.819+17A>G