Canonical Allele Identifier: CA216230216

Gene: TH

Linked Data

• dbSNP Id: rs1041009713
• MyVariant Identifiers: chr11:g.2193074A>C (hg19) ; chr11:g.2171844A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171844A>C , CM000673.2:g.2171844A>C	GRCh38
NC_000011.9:g.2193074A>C , CM000673.1:g.2193074A>C	GRCh37
NC_000011.8:g.2149650A>C	NCBI36
NG_008128.1:g.4962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.7:c.-58T>G	ENSP00000325951.3:n.-58T>G
XM_011520335.1:c.-58T>G	XP_011518637.1:n.-58T>G
XM_011520335.2:c.-58T>G	XP_011518637.1:n.-58T>G