Canonical Allele Identifier: CA15686289
Gene: TPH1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.18019049T>C
GRCh37 chr11:g.18040596T>C
gnomAD v2:
11:18040596 T / C
gnomAD v3:
11:18019049 T / C
gnomAD v4:
chr11-18019049-T-C
Joint Max Group AF 0.60170893 (MID)
Genomes Max Group AF 0.56647408 (NFE)
Exomes Max Group AF 0.2177509 (NFE)
dbSNP:
2108977
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18019049T>C , CM000673.2:g.18019049T>C GRCh38
NC_000011.9:g.18040596T>C , CM000673.1:g.18040596T>C GRCh37
NC_000011.8:g.17997172T>C NCBI36
NG_011947.1:g.26740A>G
NG_011947.2:g.26740A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.*1942A>G MANE Select ENSP00000508368.1:n.*1942A>G
ENST00000250018.6:c.*1942A>G ENSP00000250018.2:n.*1942A>G
NM_004179.3:c.*1942A>G MANE Select NP_004170.1:n.*1942A>G
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