Canonical Allele Identifier: CA674605090

Gene: TH

Linked Data

• dbSNP Id: rs1475326381
• gnomAD v3: 11-2171829-C-G
• gnomAD v4: 11-2171829-C-G
• MyVariant Identifiers: chr11:g.2193059C>G (hg19) ; chr11:g.2171829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171829C>G , CM000673.2:g.2171829C>G	GRCh38
NC_000011.9:g.2193059C>G , CM000673.1:g.2193059C>G	GRCh37
NC_000011.8:g.2149635C>G	NCBI36
NG_008128.1:g.4977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.7:c.-43G>C	ENSP00000325951.3:n.-43G>C
XM_011520335.1:c.-43G>C	XP_011518637.1:n.-43G>C
XM_011520335.2:c.-43G>C	XP_011518637.1:n.-43G>C