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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:
CA3186203
Gene: SLC6A3
HGNC
NCBI
Linked Data
dbSNP Id:
rs760873242
ExAC:
5:1416228 G / T
gnomAD v2:
5-1416228-G-T
gnomAD v4:
5-1416113-G-T
MyVariant Identifiers:
chr5:g.1416228G>T (hg19)
chr5:g.1416113G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1416113G>T , CM000667.2:g.1416113G>T
GRCh38
NC_000005.9:g.1416228G>T , CM000667.1:g.1416228G>T
GRCh37
NC_000005.8:g.1469228G>T
NCBI36
NG_015885.1:g.34316C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.1016C>A
MANE Select
ENSP00000270349.9:p.Thr339Asn
ENST00000270349.11:c.1016C>A
ENSP00000270349.9:p.Thr339Asn
ENST00000511750.1:n.466C>A
NM_001044.4:c.1016C>A
NP_001035.1:p.Thr339Asn
NM_001044.5:c.1016C>A
MANE Select
NP_001035.1:p.Thr339Asn
Search 100 bp 5'
Search 100 bp 3'