Canonical Allele Identifier: CA5818914

Gene: TH

Linked Data

• dbSNP Id: rs775998400
• ExAC: 11:2193064 A / G
• gnomAD v2: 11-2193064-A-G
• gnomAD v4: 11-2171834-A-G
• MyVariant Identifiers: chr11:g.2193064A>G (hg19) ; chr11:g.2171834A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171834A>G , CM000673.2:g.2171834A>G	GRCh38
NC_000011.9:g.2193064A>G , CM000673.1:g.2193064A>G	GRCh37
NC_000011.8:g.2149640A>G	NCBI36
NG_008128.1:g.4972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.7:c.-48T>C	ENSP00000325951.3:n.-48T>C
XM_011520335.1:c.-48T>C	XP_011518637.1:n.-48T>C
XM_011520335.2:c.-48T>C	XP_011518637.1:n.-48T>C