Canonical Allele Identifier: CA691624738
Gene: TPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1450725317
gnomAD v3: 12-71942953-C-T
gnomAD v4: 12-71942953-C-T
MyVariant Identifiers: chr12:g.72336733C>T (hg19) chr12:g.71942953C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71942953C>T , CM000674.2:g.71942953C>T GRCh38
NC_000012.11:g.72336733C>T , CM000674.1:g.72336733C>T GRCh37
NC_000012.10:g.70623000C>T NCBI36
NG_008279.1:g.9108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333850.4:c.255+1220C>T MANE Select ENSP00000329093.3:n.255+1220C>T
ENST00000333850.3:c.255+1220C>T ENSP00000329093.3:n.255+1220C>T
ENST00000546576.1:n.265+1220C>T
NM_173353.3:c.255+1220C>T NP_775489.2:n.255+1220C>T
XR_245894.2:n.355+1220C>T
XR_001748575.1:n.355+1220C>T
NM_173353.4:c.255+1220C>T MANE Select NP_775489.2:n.255+1220C>T
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