Canonical Allele Identifier: CA5818917
Gene: TH HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2173160G>A
GRCh37 chr11:g.2194390G>A
gnomAD v2:
11:2194390 G / A
gnomAD v3:
11:2173160 G / A
gnomAD v4:
chr11-2173160-G-A
Joint Max Group AF 0.21642624 (AMR)
Genomes Max Group AF 0.21648232 (AMR)
Exomes Max Group AF 0.12270802 (MID)
dbSNP:
10840491
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2173160G>A , CM000673.2:g.2173160G>A GRCh38
NC_000011.9:g.2194390G>A , CM000673.1:g.2194390G>A GRCh37
NC_000011.8:g.2150966G>A NCBI36
NG_008128.1:g.3646C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.2:c.-1374C>T XP_011518637.1:n.-1374C>T
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