Canonical Allele Identifier: CA2611984469
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171851-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171851G>T , CM000673.2:g.2171851G>T GRCh38
NC_000011.9:g.2193081G>T , CM000673.1:g.2193081G>T GRCh37
NC_000011.8:g.2149657G>T NCBI36
NG_008128.1:g.4955C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.7:c.-65C>A ENSP00000325951.3:n.-65C>A
XM_011520335.1:c.-65C>A XP_011518637.1:n.-65C>A
XM_011520335.2:c.-65C>A XP_011518637.1:n.-65C>A