Canonical Allele Identifier: CA216230327

Gene: TH

Linked Data

• dbSNP Id: rs1030302882
• gnomAD v3: 11-2171921-C-G
• gnomAD v4: 11-2171921-C-G
• MyVariant Identifiers: chr11:g.2193151C>G (hg19) ; chr11:g.2171921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171921C>G , CM000673.2:g.2171921C>G	GRCh38
NC_000011.9:g.2193151C>G , CM000673.1:g.2193151C>G	GRCh37
NC_000011.8:g.2149727C>G	NCBI36
NG_008128.1:g.4885G>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011520335.1:c.-135G>C	XP_011518637.1:n.-135G>C
XM_011520335.2:c.-135G>C	XP_011518637.1:n.-135G>C