Canonical Allele Identifier: CA382077886

Gene: TYR

Linked Data

• dbSNP Id: rs1344784254
• gnomAD v2: 11-89017975-C-T
• MyVariant Identifiers: chr11:g.89017975C>T (hg19) ; chr11:g.89284807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284807C>T , CM000673.2:g.89284807C>T	GRCh38
NC_000011.9:g.89017975C>T , CM000673.1:g.89017975C>T	GRCh37
NC_000011.8:g.88657623C>T	NCBI36
NG_008748.1:g.111936C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1219C>T MANE Select	ENSP00000263321.4:p.Leu407Phe
ENST00000263321.5:c.1219C>T	ENSP00000263321.4:p.Leu407Phe
ENST00000528243.1:n.217C>T
NM_000372.4:c.1219C>T	NP_000363.1:p.Leu407Phe
XM_011542970.1:c.1219C>T	XP_011541272.1:p.Leu407Phe
XM_011542970.2:c.1219C>T	XP_011541272.1:p.Leu407Phe
XR_001748321.1:n.2456+1227G>A
XR_001748322.1:n.2457+1227G>A
NM_000372.5:c.1219C>T MANE Select	NP_000363.1:p.Leu407Phe