Canonical Allele Identifier: CA476157232

Gene: TYR

Linked Data

• ClinVar Variation Id: 2829371
• ClinVar RCV Id: RCV003686281
• MyVariant Identifiers: chr11:g.88911472C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178304C>T , CM000673.2:g.89178304C>T	GRCh38
NC_000011.9:g.88911472C>T , CM000673.1:g.88911472C>T	GRCh37
NC_000011.8:g.88551120C>T	NCBI36
NG_008748.1:g.5433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.351C>T MANE Select	ENSP00000263321.4:p.Leu117=
ENST00000263321.5:c.351C>T	ENSP00000263321.4:p.Leu117=
ENST00000526139.1:n.412C>T
NM_000372.4:c.351C>T	NP_000363.1:p.Leu117=
XM_011542970.1:c.351C>T	XP_011541272.1:p.Leu117=
XM_011542970.2:c.351C>T	XP_011541272.1:p.Leu117=
XR_001748321.1:n.2718-64771G>A
XR_001748322.1:n.2733-64771G>A
NM_000372.5:c.351C>T MANE Select	NP_000363.1:p.Leu117=