Canonical Allele Identifier: CA674605124

Gene: TH

Linked Data

• dbSNP Id: rs1191522583
• gnomAD v4: 11-2171883-C-T
• MyVariant Identifiers: chr11:g.2193113C>T (hg19) ; chr11:g.2171883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171883C>T , CM000673.2:g.2171883C>T	GRCh38
NC_000011.9:g.2193113C>T , CM000673.1:g.2193113C>T	GRCh37
NC_000011.8:g.2149689C>T	NCBI36
NG_008128.1:g.4923G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011520335.1:c.-97G>A	XP_011518637.1:n.-97G>A
XM_011520335.2:c.-97G>A	XP_011518637.1:n.-97G>A