Canonical Allele Identifier: CA2592463523
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1854327655
gnomAD v3: 11-18018954-A-G
gnomAD v4: 11-18018954-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18018954A>G , CM000673.2:g.18018954A>G GRCh38
NC_000011.9:g.18040501A>G , CM000673.1:g.18040501A>G GRCh37
NC_000011.8:g.17997077A>G NCBI36
NG_011947.1:g.26835T>C
NG_011947.2:g.26835T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.*2037T>C MANE Select ENSP00000508368.1:n.*2037T>C
ENST00000250018.6:c.*2037T>C ENSP00000250018.2:n.*2037T>C
NM_004179.3:c.*2037T>C MANE Select NP_004170.1:n.*2037T>C
Search 100 bp 5'
Search 100 bp 3'