Canonical Allele Identifier: CA882350112

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1259370341
• gnomAD v4: 19-41422841-C-G
• MyVariant Identifiers: chr19:g.41928746C>G (hg19) ; chr19:g.41422841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422841C>G , CM000681.2:g.41422841C>G	GRCh38
NC_000019.9:g.41928746C>G , CM000681.1:g.41928746C>G	GRCh37
NC_000019.8:g.46620586C>G	NCBI36
NG_013004.1:g.30053C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+71C>G MANE Select	ENSP00000269980.2:n.995+71C>G
ENST00000269980.6:c.995+71C>G	ENSP00000269980.2:n.995+71C>G
ENST00000457836.6:c.929+71C>G	ENSP00000416000.2:n.929+71C>G
ENST00000540732.3:c.1097+71C>G	ENSP00000443246.1:n.1097+71C>G
ENST00000542943.5:c.908+71C>G	ENSP00000440345.1:n.908+71C>G
ENST00000595085.5:c.922+144C>G	ENSP00000471150.2:n.922+144C>G
NM_000709.3:c.995+71C>G	NP_000700.1:n.995+71C>G
NM_001164783.1:c.992+71C>G	NP_001158255.1:n.992+71C>G
NM_000709.4:c.995+71C>G MANE Select	NP_000700.1:n.995+71C>G
NM_001164783.2:c.992+71C>G	NP_001158255.1:n.992+71C>G