Canonical Allele Identifier: CA674251040
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1328905337
gnomAD v3: 11-18018959-T-C
gnomAD v4: 11-18018959-T-C
MyVariant Identifiers: chr11:g.18040506T>C (hg19) chr11:g.18018959T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18018959T>C , CM000673.2:g.18018959T>C GRCh38
NC_000011.9:g.18040506T>C , CM000673.1:g.18040506T>C GRCh37
NC_000011.8:g.17997082T>C NCBI36
NG_011947.1:g.26830A>G
NG_011947.2:g.26830A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682019.1:c.*2032A>G MANE Select ENSP00000508368.1:n.*2032A>G
ENST00000250018.6:c.*2032A>G ENSP00000250018.2:n.*2032A>G
NM_004179.3:c.*2032A>G MANE Select NP_004170.1:n.*2032A>G
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