Canonical Allele Identifier: CA934421042

Gene: TH

Linked Data

• dbSNP Id: rs1846278615
• gnomAD v3: 11-2172199-A-C
• gnomAD v4: 11-2172199-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2172199A>C , CM000673.2:g.2172199A>C	GRCh38
NC_000011.9:g.2193429A>C , CM000673.1:g.2193429A>C	GRCh37
NC_000011.8:g.2150005A>C	NCBI36
NG_008128.1:g.4607T>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011520335.2:c.-413T>G	XP_011518637.1:n.-413T>G