Canonical Allele Identifier: CA1948012672

Gene: TH

Linked Data

• dbSNP Id: rs1590174089
• gnomAD v3: 11-2172196-C-T
• gnomAD v4: 11-2172196-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2172196C>T , CM000673.2:g.2172196C>T	GRCh38
NC_000011.9:g.2193426C>T , CM000673.1:g.2193426C>T	GRCh37
NC_000011.8:g.2150002C>T	NCBI36
NG_008128.1:g.4610G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011520335.2:c.-410G>A	XP_011518637.1:n.-410G>A