Canonical Allele Identifier: CA218519039
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs187247681
gnomAD v3: 11-18018956-A-G
gnomAD v4: 11-18018956-A-G
MyVariant Identifiers: chr11:g.18040503A>G (hg19) chr11:g.18018956A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18018956A>G , CM000673.2:g.18018956A>G GRCh38
NC_000011.9:g.18040503A>G , CM000673.1:g.18040503A>G GRCh37
NC_000011.8:g.17997079A>G NCBI36
NG_011947.1:g.26833T>C
NG_011947.2:g.26833T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682019.1:c.*2035T>C MANE Select ENSP00000508368.1:n.*2035T>C
ENST00000250018.6:c.*2035T>C ENSP00000250018.2:n.*2035T>C
NM_004179.3:c.*2035T>C MANE Select NP_004170.1:n.*2035T>C
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