Canonical Allele Identifier: CA2611984386
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171842-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171842A>C , CM000673.2:g.2171842A>C GRCh38
NC_000011.9:g.2193072A>C , CM000673.1:g.2193072A>C GRCh37
NC_000011.8:g.2149648A>C NCBI36
NG_008128.1:g.4964T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-56T>G ENSP00000325951.3:n.-56T>G
XM_011520335.1:c.-56T>G XP_011518637.1:n.-56T>G
XM_011520335.2:c.-56T>G XP_011518637.1:n.-56T>G