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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:
CA378293979
Gene: BAG3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.121411195C>A (hg19)
chr10:g.119651683C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119651683C>A , CM000672.2:g.119651683C>A
GRCh38
NC_000010.10:g.121411195C>A , CM000672.1:g.121411195C>A
GRCh37
NC_000010.9:g.121401185C>A
NCBI36
NG_016125.1:g.5314C>A , LRG_742:g.5314C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000369085.8:c.8C>A
MANE Select
ENSP00000358081.4:p.Ala3Asp
ENST00000369085.7:c.8C>A
ENSP00000358081.3:p.Ala3Asp
NM_004281.3:c.8C>A , LRG_742t1:c.8C>A
NP_004272.2:p.Ala3Asp
XM_005270287.1:c.8C>A
XP_005270344.1:p.Ala3Asp
XM_005270287.2:c.8C>A
XP_005270344.1:p.Ala3Asp
NM_004281.4:c.8C>A
MANE Select
NP_004272.2:p.Ala3Asp
Search 100 bp 5'
Search 100 bp 3'