Canonical Allele Identifier: CA382033874

Gene: TYR

Linked Data

• dbSNP Id: rs1183890194
• gnomAD v4: 11-89178192-G-C
• MyVariant Identifiers: chr11:g.88911360G>C (hg19) ; chr11:g.89178192G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178192G>C , CM000673.2:g.89178192G>C	GRCh38
NC_000011.9:g.88911360G>C , CM000673.1:g.88911360G>C	GRCh37
NC_000011.8:g.88551008G>C	NCBI36
NG_008748.1:g.5321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.239G>C MANE Select	ENSP00000263321.4:p.Trp80Ser
ENST00000263321.5:c.239G>C	ENSP00000263321.4:p.Trp80Ser
ENST00000526139.1:n.300G>C
NM_000372.4:c.239G>C	NP_000363.1:p.Trp80Ser
XM_011542970.1:c.239G>C	XP_011541272.1:p.Trp80Ser
XM_011542970.2:c.239G>C	XP_011541272.1:p.Trp80Ser
XR_001748321.1:n.2718-64659C>G
XR_001748322.1:n.2733-64659C>G
NM_000372.5:c.239G>C MANE Select	NP_000363.1:p.Trp80Ser