Canonical Allele Identifier: CA308515770

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 706503
• ClinVar RCV Id: RCV000877137
• dbSNP Id: rs933606851
• gnomAD v2: 19-41916924-G-A
• gnomAD v3: 19-41411019-G-A
• gnomAD v4: 19-41411019-G-A
• MyVariant Identifiers: chr19:g.41916924G>A (hg19) ; chr19:g.41411019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411019G>A , CM000681.2:g.41411019G>A	GRCh38
NC_000019.9:g.41916924G>A , CM000681.1:g.41916924G>A	GRCh37
NC_000019.8:g.46608764G>A	NCBI36
NG_013004.1:g.18231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+10G>A MANE Select	ENSP00000269980.2:n.375+10G>A
ENST00000269980.6:c.375+10G>A	ENSP00000269980.2:n.375+10G>A
ENST00000457836.6:c.309+10G>A	ENSP00000416000.2:n.309+10G>A
ENST00000538423.5:n.501+10G>A
ENST00000540732.3:c.477+10G>A	ENSP00000443246.1:n.477+10G>A
ENST00000541315.1:c.182+10G>A
ENST00000542943.5:c.288+203G>A	ENSP00000440345.1:n.288+203G>A
ENST00000595085.5:c.375+10G>A	ENSP00000471150.2:n.375+10G>A
NM_000709.3:c.375+10G>A	NP_000700.1:n.375+10G>A
NM_001164783.1:c.375+10G>A	NP_001158255.1:n.375+10G>A
NM_000709.4:c.375+10G>A MANE Select	NP_000700.1:n.375+10G>A
NM_001164783.2:c.375+10G>A	NP_001158255.1:n.375+10G>A