Canonical Allele Identifier: CA476157188
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 1674248
ClinVar RCV Id: RCV002204319
dbSNP Id: rs2135242041
MyVariant Identifiers: chr11:g.88911394C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178226C>T , CM000673.2:g.89178226C>T GRCh38
NC_000011.9:g.88911394C>T , CM000673.1:g.88911394C>T GRCh37
NC_000011.8:g.88551042C>T NCBI36
NG_008748.1:g.5355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.273C>T MANE Select ENSP00000263321.4:p.Cys91=
ENST00000263321.5:c.273C>T ENSP00000263321.4:p.Cys91=
ENST00000526139.1:n.334C>T
NM_000372.4:c.273C>T NP_000363.1:p.Cys91=
XM_011542970.1:c.273C>T XP_011541272.1:p.Cys91=
XM_011542970.2:c.273C>T XP_011541272.1:p.Cys91=
XR_001748321.1:n.2718-64693G>A
XR_001748322.1:n.2733-64693G>A
NM_000372.5:c.273C>T MANE Select NP_000363.1:p.Cys91=