Canonical Allele Identifier: CA227490

Gene: TYR

Linked Data

• ClinVar Variation Id: 99528
• ClinVar RCV Id: RCV000085890 ; RCV001588915 ; RCV003460774 ; RCV004529898
• dbSNP Id: rs62645908
• ExAC: 11:88961017 G / C
• gnomAD v2: 11-88961017-G-C
• gnomAD v3: 11-89227849-G-C
• gnomAD v4: 11-89227849-G-C
• MyVariant Identifiers: chr11:g.88961017G>C (hg19) ; chr11:g.89227849G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89227849G>C , CM000673.2:g.89227849G>C	GRCh38
NC_000011.9:g.88961017G>C , CM000673.1:g.88961017G>C	GRCh37
NC_000011.8:g.88600665G>C	NCBI36
NG_008748.1:g.54978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1063G>C MANE Select	ENSP00000263321.4:p.Ala355Pro
ENST00000263321.5:c.1063G>C	ENSP00000263321.4:p.Ala355Pro
NM_000372.4:c.1063G>C	NP_000363.1:p.Ala355Pro
XM_011542970.1:c.1063G>C	XP_011541272.1:p.Ala355Pro
XM_011542970.2:c.1063G>C	XP_011541272.1:p.Ala355Pro
XR_001748321.1:n.2717+43611C>G
XR_001748322.1:n.2732+43611C>G
NM_000372.5:c.1063G>C MANE Select	NP_000363.1:p.Ala355Pro