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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA385782168
Gene: TPH2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2139221788
gnomAD v4:
12-71994537-C-T
MyVariant Identifiers:
chr12:g.72388317C>T (hg19)
chr12:g.71994537C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71994537C>T , CM000674.2:g.71994537C>T
GRCh38
NC_000012.11:g.72388317C>T , CM000674.1:g.72388317C>T
GRCh37
NC_000012.10:g.70674584C>T
NCBI36
NG_008279.1:g.60692C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000333850.4:c.1040C>T
MANE Select
ENSP00000329093.3:p.Ser347Leu
ENST00000333850.3:c.1040C>T
ENSP00000329093.3:p.Ser347Leu
NM_173353.3:c.1040C>T
NP_775489.2:p.Ser347Leu
XM_011537899.1:c.446C>T
XP_011536201.1:p.Ser149Leu
NM_173353.4:c.1040C>T
MANE Select
NP_775489.2:p.Ser347Leu
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