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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:
CA2637000471
Gene: SLC6A4
HGNC
NCBI
Linked Data
gnomAD v4:
17-30197894-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30197894G>T , CM000679.2:g.30197894G>T
GRCh38
NC_000017.10:g.28524912G>T , CM000679.1:g.28524912G>T
GRCh37
NC_000017.9:g.25549038G>T
NCBI36
NG_011747.2:g.43043C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000650711.1:c.*562C>A
MANE Select
ENSP00000498537.1:n.*562C>A
ENST00000261707.7:c.*562C>A
ENSP00000261707.3:n.*562C>A
ENST00000401766.6:c.*562C>A
ENSP00000385822.2:n.*562C>A
NM_001045.5:c.*562C>A
NP_001036.1:n.*562C>A
NM_001045.6:c.*562C>A
MANE Select
NP_001036.1:n.*562C>A
Search 100 bp 5'
Search 100 bp 3'