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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
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Canonical Allele Identifier:
CA2584851348
Gene: ATCAY
HGNC
NCBI
Linked Data
gnomAD v4:
19-3925949-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.3925949G>T , CM000681.2:g.3925949G>T
GRCh38
NC_000019.9:g.3925947G>T , CM000681.1:g.3925947G>T
GRCh37
NC_000019.8:g.3876947G>T
NCBI36
NG_012638.1:g.50330G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000450849.7:c.*1357G>T
MANE Select
ENSP00000390941.1:n.*1357G>T
ENST00000450849.6:c.*1357G>T
ENSP00000390941.1:n.*1357G>T
ENST00000600960.1:c.2537G>T
ENSP00000470842.1:n.2537G>T
ENST00000601323.1:n.439+228G>T
NM_033064.4:c.*1357G>T
NP_149053.1:n.*1357G>T
NM_033064.5:c.*1357G>T
MANE Select
NP_149053.1:n.*1357G>T
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