Canonical Allele Identifier: CA308525029

Gene: BCKDHA

Linked Data

• dbSNP Id: rs971966509
• gnomAD v3: 19-41422852-A-G
• gnomAD v4: 19-41422852-A-G
• MyVariant Identifiers: chr19:g.41928757A>G (hg19) ; chr19:g.41422852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422852A>G , CM000681.2:g.41422852A>G	GRCh38
NC_000019.9:g.41928757A>G , CM000681.1:g.41928757A>G	GRCh37
NC_000019.8:g.46620597A>G	NCBI36
NG_013004.1:g.30064A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+82A>G MANE Select	ENSP00000269980.2:n.995+82A>G
ENST00000269980.6:c.995+82A>G	ENSP00000269980.2:n.995+82A>G
ENST00000457836.6:c.930-71A>G	ENSP00000416000.2:n.930-71A>G
ENST00000540732.3:c.1097+82A>G	ENSP00000443246.1:n.1097+82A>G
ENST00000542943.5:c.908+82A>G	ENSP00000440345.1:n.908+82A>G
ENST00000595085.5:c.922+155A>G	ENSP00000471150.2:n.922+155A>G
NM_000709.3:c.995+82A>G	NP_000700.1:n.995+82A>G
NM_001164783.1:c.992+82A>G	NP_001158255.1:n.992+82A>G
NM_000709.4:c.995+82A>G MANE Select	NP_000700.1:n.995+82A>G
NM_001164783.2:c.992+82A>G	NP_001158255.1:n.992+82A>G