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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:
CA368543074
Gene: ACTL6B
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr7:g.100244655G>T (hg19)
chr7:g.100647032G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.100647032G>T , CM000669.2:g.100647032G>T
GRCh38
NC_000007.13:g.100244655G>T , CM000669.1:g.100244655G>T
GRCh37
NC_000007.12:g.100082591G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000160382.10:c.875C>A
MANE Select
ENSP00000160382.5:p.Thr292Lys
ENST00000160382.9:c.875C>A
ENSP00000160382.5:p.Thr292Lys
ENST00000487125.1:n.437C>A
NM_016188.4:c.875C>A
NP_057272.1:p.Thr292Lys
XR_927476.1:n.982C>A
NR_134539.1:n.982C>A
NM_016188.5:c.875C>A
MANE Select
NP_057272.1:p.Thr292Lys
NR_134539.2:n.969C>A
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