Canonical Allele Identifier: CA6221052

Gene: TYR

Linked Data

• ClinVar Variation Id: 617794
• ClinVar RCV Id: RCV000755067 ; RCV000785610 ; RCV003558555
• dbSNP Id: rs28940879
• ExAC: 11:88911285 G / C
• gnomAD v2: 11-88911285-G-C
• MyVariant Identifiers: chr11:g.88911285G>C (hg19) ; chr11:g.89178117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178117G>C , CM000673.2:g.89178117G>C	GRCh38
NC_000011.9:g.88911285G>C , CM000673.1:g.88911285G>C	GRCh37
NC_000011.8:g.88550933G>C	NCBI36
NG_008748.1:g.5246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.164G>C MANE Select	ENSP00000263321.4:p.Cys55Ser
ENST00000263321.5:c.164G>C	ENSP00000263321.4:p.Cys55Ser
ENST00000526139.1:n.225G>C
NM_000372.4:c.164G>C	NP_000363.1:p.Cys55Ser
XM_011542970.1:c.164G>C	XP_011541272.1:p.Cys55Ser
XM_011542970.2:c.164G>C	XP_011541272.1:p.Cys55Ser
XR_001748321.1:n.2718-64584C>G
XR_001748322.1:n.2733-64584C>G
NM_000372.5:c.164G>C MANE Select	NP_000363.1:p.Cys55Ser