Canonical Allele Identifier: CA995969346

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039248686
• gnomAD v3: 19-41411081-G-A
• gnomAD v4: 19-41411081-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411081G>A , CM000681.2:g.41411081G>A	GRCh38
NC_000019.9:g.41916986G>A , CM000681.1:g.41916986G>A	GRCh37
NC_000019.8:g.46608826G>A	NCBI36
NG_013004.1:g.18293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+72G>A MANE Select	ENSP00000269980.2:n.375+72G>A
ENST00000269980.6:c.375+72G>A	ENSP00000269980.2:n.375+72G>A
ENST00000457836.6:c.309+72G>A	ENSP00000416000.2:n.309+72G>A
ENST00000538423.5:n.501+72G>A
ENST00000540732.3:c.477+72G>A	ENSP00000443246.1:n.477+72G>A
ENST00000541315.1:c.182+72G>A
ENST00000542943.5:c.288+265G>A	ENSP00000440345.1:n.288+265G>A
ENST00000595085.5:c.375+72G>A	ENSP00000471150.2:n.375+72G>A
NM_000709.3:c.375+72G>A	NP_000700.1:n.375+72G>A
NM_001164783.1:c.375+72G>A	NP_001158255.1:n.375+72G>A
NM_000709.4:c.375+72G>A MANE Select	NP_000700.1:n.375+72G>A
NM_001164783.2:c.375+72G>A	NP_001158255.1:n.375+72G>A