Canonical Allele Identifier: CA218519052
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs932777419
MyVariant Identifiers: chr11:g.18040540A>G (hg19) chr11:g.18018993A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18018993A>G , CM000673.2:g.18018993A>G GRCh38
NC_000011.9:g.18040540A>G , CM000673.1:g.18040540A>G GRCh37
NC_000011.8:g.17997116A>G NCBI36
NG_011947.1:g.26796T>C
NG_011947.2:g.26796T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.*1998T>C MANE Select ENSP00000508368.1:n.*1998T>C
ENST00000250018.6:c.*1998T>C ENSP00000250018.2:n.*1998T>C
NM_004179.3:c.*1998T>C MANE Select NP_004170.1:n.*1998T>C
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