Canonical Allele Identifier: CA382033900
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1181107169
gnomAD v2: 11-88911366-C-G
gnomAD v3: 11-89178198-C-G
gnomAD v4: 11-89178198-C-G
MyVariant Identifiers: chr11:g.88911366C>G (hg19) chr11:g.89178198C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178198C>G , CM000673.2:g.89178198C>G GRCh38
NC_000011.9:g.88911366C>G , CM000673.1:g.88911366C>G GRCh37
NC_000011.8:g.88551014C>G NCBI36
NG_008748.1:g.5327C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.245C>G MANE Select ENSP00000263321.4:p.Ser82Cys
ENST00000263321.5:c.245C>G ENSP00000263321.4:p.Ser82Cys
ENST00000526139.1:n.306C>G
NM_000372.4:c.245C>G NP_000363.1:p.Ser82Cys
XM_011542970.1:c.245C>G XP_011541272.1:p.Ser82Cys
XM_011542970.2:c.245C>G XP_011541272.1:p.Ser82Cys
XR_001748321.1:n.2718-64665G>C
XR_001748322.1:n.2733-64665G>C
NM_000372.5:c.245C>G MANE Select NP_000363.1:p.Ser82Cys
Search 100 bp 5'
Search 100 bp 3'