×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA378293973
Gene: BAG3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.121411192G>C (hg19)
chr10:g.119651680G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119651680G>C , CM000672.2:g.119651680G>C
GRCh38
NC_000010.10:g.121411192G>C , CM000672.1:g.121411192G>C
GRCh37
NC_000010.9:g.121401182G>C
NCBI36
NG_016125.1:g.5311G>C , LRG_742:g.5311G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000369085.8:c.5G>C
MANE Select
ENSP00000358081.4:p.Ser2Thr
ENST00000369085.7:c.5G>C
ENSP00000358081.3:p.Ser2Thr
NM_004281.3:c.5G>C , LRG_742t1:c.5G>C
NP_004272.2:p.Ser2Thr
XM_005270287.1:c.5G>C
XP_005270344.1:p.Ser2Thr
XM_005270287.2:c.5G>C
XP_005270344.1:p.Ser2Thr
NM_004281.4:c.5G>C
MANE Select
NP_004272.2:p.Ser2Thr
Search 100 bp 5'
Search 100 bp 3'