Canonical Allele Identifier: CA216230293

Gene: TH

Linked Data

• dbSNP Id: rs183554715
• gnomAD v2: 11-2193110-C-A
• gnomAD v3: 11-2171880-C-A
• gnomAD v4: 11-2171880-C-A
• MyVariant Identifiers: chr11:g.2193110C>A (hg19) ; chr11:g.2171880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171880C>A , CM000673.2:g.2171880C>A	GRCh38
NC_000011.9:g.2193110C>A , CM000673.1:g.2193110C>A	GRCh37
NC_000011.8:g.2149686C>A	NCBI36
NG_008128.1:g.4926G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011520335.1:c.-94G>T	XP_011518637.1:n.-94G>T
XM_011520335.2:c.-94G>T	XP_011518637.1:n.-94G>T