Canonical Allele Identifier: CA597089962

Gene: TH

Linked Data

• dbSNP Id: rs1486304946
• gnomAD v2: 11-2193047-C-T
• gnomAD v4: 11-2171817-C-T
• MyVariant Identifiers: chr11:g.2193047C>T (hg19) ; chr11:g.2171817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171817C>T , CM000673.2:g.2171817C>T	GRCh38
NC_000011.9:g.2193047C>T , CM000673.1:g.2193047C>T	GRCh37
NC_000011.8:g.2149623C>T	NCBI36
NG_008128.1:g.4989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.7:c.-31G>A	ENSP00000325951.3:n.-31G>A
XM_011520335.1:c.-31G>A	XP_011518637.1:n.-31G>A
XM_011520335.2:c.-31G>A	XP_011518637.1:n.-31G>A