Canonical Allele Identifier: CA674605115

Gene: TH

Linked Data

• dbSNP Id: rs1457829130
• gnomAD v3: 11-2171872-G-A
• gnomAD v4: 11-2171872-G-A
• MyVariant Identifiers: chr11:g.2193102G>A (hg19) ; chr11:g.2171872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171872G>A , CM000673.2:g.2171872G>A	GRCh38
NC_000011.9:g.2193102G>A , CM000673.1:g.2193102G>A	GRCh37
NC_000011.8:g.2149678G>A	NCBI36
NG_008128.1:g.4934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.7:c.-86C>T	ENSP00000325951.3:n.-86C>T
XM_011520335.1:c.-86C>T	XP_011518637.1:n.-86C>T
XM_011520335.2:c.-86C>T	XP_011518637.1:n.-86C>T