Allele Registry

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.

Canonical Allele Identifier: CA9461853

Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs17318596

ExAC: 19:41937095 G / A

gnomAD v2: 19-41937095-G-A

gnomAD v3: 19-41431190-G-A

gnomAD v4: 19-41431190-G-A

MyVariant Identifiers: chr19:g.41937095G>A (hg19) chr19:g.41431190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41431190G>A , CM000681.2:g.41431190G>A	GRCh38
NC_000019.9:g.41937095G>A , CM000681.1:g.41937095G>A	GRCh37
NC_000019.8:g.46628935G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595085.5:c.1057G>A	ENSP00000471150.2:p.Ala353Thr

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