Canonical Allele Identifier: CA2611984476
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171852-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171852C>G , CM000673.2:g.2171852C>G GRCh38
NC_000011.9:g.2193082C>G , CM000673.1:g.2193082C>G GRCh37
NC_000011.8:g.2149658C>G NCBI36
NG_008128.1:g.4954G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-66G>C ENSP00000325951.3:n.-66G>C
XM_011520335.1:c.-66G>C XP_011518637.1:n.-66G>C
XM_011520335.2:c.-66G>C XP_011518637.1:n.-66G>C