Canonical Allele Identifier: CA382034807

Gene: TYR

Linked Data

• dbSNP Id: rs147574809
• gnomAD v2: 11-88911706-G-C
• gnomAD v4: 11-89178538-G-C
• MyVariant Identifiers: chr11:g.88911706G>C (hg19) ; chr11:g.89178538G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178538G>C , CM000673.2:g.89178538G>C	GRCh38
NC_000011.9:g.88911706G>C , CM000673.1:g.88911706G>C	GRCh37
NC_000011.8:g.88551354G>C	NCBI36
NG_008748.1:g.5667G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.585G>C MANE Select	ENSP00000263321.4:p.Trp195Cys
ENST00000263321.5:c.585G>C	ENSP00000263321.4:p.Trp195Cys
ENST00000526139.1:n.646G>C
NM_000372.4:c.585G>C	NP_000363.1:p.Trp195Cys
XM_011542970.1:c.585G>C	XP_011541272.1:p.Trp195Cys
XM_011542970.2:c.585G>C	XP_011541272.1:p.Trp195Cys
XR_001748321.1:n.2718-65005C>G
XR_001748322.1:n.2733-65005C>G
NM_000372.5:c.585G>C MANE Select	NP_000363.1:p.Trp195Cys