Canonical Allele Identifier: CA385782077
Gene: TPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71994518C>G , CM000674.2:g.71994518C>G GRCh38
NC_000012.11:g.72388298C>G , CM000674.1:g.72388298C>G GRCh37
NC_000012.10:g.70674565C>G NCBI36
NG_008279.1:g.60673C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333850.4:c.1021C>G MANE Select ENSP00000329093.3:p.Leu341Val
ENST00000333850.3:c.1021C>G ENSP00000329093.3:p.Leu341Val
NM_173353.3:c.1021C>G NP_775489.2:p.Leu341Val
XM_011537899.1:c.427C>G XP_011536201.1:p.Leu143Val
NM_173353.4:c.1021C>G MANE Select NP_775489.2:p.Leu341Val