Canonical Allele Identifier: CA9461323

Gene: BCKDHA

Linked Data

• dbSNP Id: rs763286638
• ExAC: 19:41928714 G / A
• gnomAD v2: 19-41928714-G-A
• gnomAD v3: 19-41422809-G-A
• gnomAD v4: 19-41422809-G-A
• MyVariant Identifiers: chr19:g.41928714G>A (hg19) ; chr19:g.41422809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422809G>A , CM000681.2:g.41422809G>A	GRCh38
NC_000019.9:g.41928714G>A , CM000681.1:g.41928714G>A	GRCh37
NC_000019.8:g.46620554G>A	NCBI36
NG_013004.1:g.30021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+39G>A MANE Select	ENSP00000269980.2:n.995+39G>A
ENST00000269980.6:c.995+39G>A	ENSP00000269980.2:n.995+39G>A
ENST00000457836.6:c.929+39G>A	ENSP00000416000.2:n.929+39G>A
ENST00000540732.3:c.1097+39G>A	ENSP00000443246.1:n.1097+39G>A
ENST00000542943.5:c.908+39G>A	ENSP00000440345.1:n.908+39G>A
ENST00000595085.5:c.922+112G>A	ENSP00000471150.2:n.922+112G>A
NM_000709.3:c.995+39G>A	NP_000700.1:n.995+39G>A
NM_001164783.1:c.992+39G>A	NP_001158255.1:n.992+39G>A
NM_000709.4:c.995+39G>A MANE Select	NP_000700.1:n.995+39G>A
NM_001164783.2:c.992+39G>A	NP_001158255.1:n.992+39G>A