Canonical Allele Identifier: CA2611984378
Gene: TH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171840_2171841del , CM000673.2:g.2171840_2171841del GRCh38
NC_000011.9:g.2193070_2193071del , CM000673.1:g.2193070_2193071del GRCh37
NC_000011.8:g.2149646_2149647del NCBI36
NG_008128.1:g.4965_4966del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-55_-54del ENSP00000325951.3:n.-55_-54del
XM_011520335.1:c.-55_-54del XP_011518637.1:n.-55_-54del
XM_011520335.2:c.-55_-54del XP_011518637.1:n.-55_-54del