Canonical Allele Identifier: CA597090054

Gene: TH

Linked Data

• dbSNP Id: rs1229399484
• gnomAD v2: 11-2193396-A-G
• gnomAD v3: 11-2172166-A-G
• gnomAD v4: 11-2172166-A-G
• MyVariant Identifiers: chr11:g.2193396A>G (hg19) ; chr11:g.2172166A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2172166A>G , CM000673.2:g.2172166A>G	GRCh38
NC_000011.9:g.2193396A>G , CM000673.1:g.2193396A>G	GRCh37
NC_000011.8:g.2149972A>G	NCBI36
NG_008128.1:g.4640T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011520335.2:c.-380T>C	XP_011518637.1:n.-380T>C