Canonical Allele Identifier: CA597678461
Gene: TPH1 HGNC NCBI

Linked Data

dbSNP Id: rs1268110704
gnomAD v2: 11-18055129-T-G
MyVariant Identifiers: chr11:g.18055129T>G (hg19) chr11:g.18033582T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18033582T>G , CM000673.2:g.18033582T>G GRCh38
NC_000011.9:g.18055129T>G , CM000673.1:g.18055129T>G GRCh37
NC_000011.8:g.18011705T>G NCBI36
NG_011947.1:g.12207A>C
NG_011947.2:g.12207A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.302-208A>C MANE Select ENSP00000508368.1:n.302-208A>C
ENST00000250018.6:c.302-208A>C ENSP00000250018.2:n.302-208A>C
ENST00000417164.5:c.302-208A>C ENSP00000403831.1:n.302-208A>C
ENST00000528338.1:c.332-208A>C ENSP00000436081.1:n.332-208A>C
NM_004179.2:c.302-208A>C NP_004170.1:n.302-208A>C
NM_004179.3:c.302-208A>C MANE Select NP_004170.1:n.302-208A>C
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