Canonical Allele Identifier: CA382035545

Gene: TYR

Linked Data

• dbSNP Id: rs1943262936
• MyVariant Identifiers: chr11:g.88911915C>A (hg19) ; chr11:g.89178747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178747C>A , CM000673.2:g.89178747C>A	GRCh38
NC_000011.9:g.88911915C>A , CM000673.1:g.88911915C>A	GRCh37
NC_000011.8:g.88551563C>A	NCBI36
NG_008748.1:g.5876C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.794C>A MANE Select	ENSP00000263321.4:p.Pro265Gln
ENST00000263321.5:c.794C>A	ENSP00000263321.4:p.Pro265Gln
ENST00000526139.1:n.855C>A
NM_000372.4:c.794C>A	NP_000363.1:p.Pro265Gln
XM_011542970.1:c.794C>A	XP_011541272.1:p.Pro265Gln
XM_011542970.2:c.794C>A	XP_011541272.1:p.Pro265Gln
XR_001748321.1:n.2718-65214G>T
XR_001748322.1:n.2733-65214G>T
NM_000372.5:c.794C>A MANE Select	NP_000363.1:p.Pro265Gln