Canonical Allele Identifier: CA601191360

Gene: TYR

Linked Data

• ClinVar Variation Id: 2632089
• ClinVar RCV Id: RCV003553902 ; RCV004528594
• dbSNP Id: rs1364823765
• gnomAD v2: 11-88911693-GA-G
• gnomAD v3: 11-89178525-GA-G
• gnomAD v4: 11-89178525-GA-G
• MyVariant Identifiers: chr11:g.88911694del (hg19) ; chr11:g.89178526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178526del , CM000673.2:g.89178526del	GRCh38
NC_000011.9:g.88911694del , CM000673.1:g.88911694del	GRCh37
NC_000011.8:g.88551342del	NCBI36
NG_008748.1:g.5655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.573del MANE Select	ENSP00000263321.4:p.Ser192LeufsTer?
ENST00000263321.5:c.573del	ENSP00000263321.4:p.Ser192LeufsTer?
ENST00000526139.1:n.634del
NM_000372.4:c.573del	NP_000363.1:p.Ser192LeufsTer?
XM_011542970.1:c.573del	XP_011541272.1:p.Ser192LeufsTer?
XM_011542970.2:c.573del	XP_011541272.1:p.Ser192LeufsTer?
XR_001748321.1:n.2718-64993del
XR_001748322.1:n.2733-64993del
NM_000372.5:c.573del MANE Select	NP_000363.1:p.Ser192LeufsTer?