Canonical Allele Identifier: CA218516573
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1055294672
gnomAD v3: 11-18033727-T-G
gnomAD v4: 11-18033727-T-G
MyVariant Identifiers: chr11:g.18055274T>G (hg19) chr11:g.18033727T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18033727T>G , CM000673.2:g.18033727T>G GRCh38
NC_000011.9:g.18055274T>G , CM000673.1:g.18055274T>G GRCh37
NC_000011.8:g.18011850T>G NCBI36
NG_011947.1:g.12062A>C
NG_011947.2:g.12062A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682019.1:c.302-353A>C MANE Select ENSP00000508368.1:n.302-353A>C
ENST00000250018.6:c.302-353A>C ENSP00000250018.2:n.302-353A>C
ENST00000417164.5:c.302-353A>C ENSP00000403831.1:n.302-353A>C
ENST00000528338.1:c.332-353A>C ENSP00000436081.1:n.332-353A>C
NM_004179.2:c.302-353A>C NP_004170.1:n.302-353A>C
NM_004179.3:c.302-353A>C MANE Select NP_004170.1:n.302-353A>C
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