Canonical Allele Identifier: CA218519051
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs76970850
gnomAD v2: 11-18040536-T-C
gnomAD v3: 11-18018989-T-C
gnomAD v4: 11-18018989-T-C
MyVariant Identifiers: chr11:g.18040536T>C (hg19) chr11:g.18018989T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18018989T>C , CM000673.2:g.18018989T>C GRCh38
NC_000011.9:g.18040536T>C , CM000673.1:g.18040536T>C GRCh37
NC_000011.8:g.17997112T>C NCBI36
NG_011947.1:g.26800A>G
NG_011947.2:g.26800A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.*2002A>G MANE Select ENSP00000508368.1:n.*2002A>G
ENST00000250018.6:c.*2002A>G ENSP00000250018.2:n.*2002A>G
NM_004179.3:c.*2002A>G MANE Select NP_004170.1:n.*2002A>G
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