Canonical Allele Identifier: CA13375389
Gene: TPH1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.18042430A>T
GRCh37 chr11:g.18063977A>T
gnomAD v2:
11:18063977 A / T
gnomAD v3:
11:18042430 A / T
gnomAD v4:
chr11-18042430-A-T
Joint Max Group AF 0.65962336 (NFE)
Genomes Max Group AF 0.65077228 (NFE)
Exomes Max Group AF 0.66200357 (NFE)
dbSNP:
623580
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18042430A>T , CM000673.2:g.18042430A>T GRCh38
NC_000011.9:g.18063977A>T , CM000673.1:g.18063977A>T GRCh37
NC_000011.8:g.18020553A>T NCBI36
NG_011947.1:g.3359T>A
NG_011947.2:g.3359T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.-26-1642T>A MANE Select ENSP00000508368.1:n.-26-1642T>A
NM_004179.3:c.-26-1642T>A MANE Select NP_004170.1:n.-26-1642T>A
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