Canonical Allele Identifier: CA382077899

Gene: TYR

Linked Data

• dbSNP Id: rs1296165748
• gnomAD v3: 11-89284813-G-C
• gnomAD v4: 11-89284813-G-C
• MyVariant Identifiers: chr11:g.89017981G>C (hg19) ; chr11:g.89284813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284813G>C , CM000673.2:g.89284813G>C	GRCh38
NC_000011.9:g.89017981G>C , CM000673.1:g.89017981G>C	GRCh37
NC_000011.8:g.88657629G>C	NCBI36
NG_008748.1:g.111942G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1225G>C MANE Select	ENSP00000263321.4:p.Glu409Gln
ENST00000263321.5:c.1225G>C	ENSP00000263321.4:p.Glu409Gln
ENST00000528243.1:n.223G>C
NM_000372.4:c.1225G>C	NP_000363.1:p.Glu409Gln
XM_011542970.1:c.1225G>C	XP_011541272.1:p.Glu409Gln
XM_011542970.2:c.1225G>C	XP_011541272.1:p.Glu409Gln
XR_001748321.1:n.2456+1221C>G
XR_001748322.1:n.2457+1221C>G
NM_000372.5:c.1225G>C MANE Select	NP_000363.1:p.Glu409Gln