Canonical Allele Identifier: CA406012929

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1519764
• ClinVar RCV Id: RCV002024792
• dbSNP Id: rs2122143393
• gnomAD v4: 19-41422293-C-T
• MyVariant Identifiers: chr19:g.41928198C>T (hg19) ; chr19:g.41422293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422293C>T , CM000681.2:g.41422293C>T	GRCh38
NC_000019.9:g.41928198C>T , CM000681.1:g.41928198C>T	GRCh37
NC_000019.8:g.46620038C>T	NCBI36
NG_013004.1:g.29505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.776C>T MANE Select	ENSP00000269980.2:p.Pro259Leu
ENST00000269980.6:c.776C>T	ENSP00000269980.2:p.Pro259Leu
ENST00000457836.6:c.710C>T	ENSP00000416000.2:p.Pro237Leu
ENST00000535632.5:n.405C>T
ENST00000540732.3:c.878C>T	ENSP00000443246.1:p.Pro293Leu
ENST00000542943.5:c.689C>T	ENSP00000440345.1:p.Pro230Leu
ENST00000545787.1:n.404C>T
ENST00000595085.5:c.776C>T	ENSP00000471150.2:p.Pro259Leu
NM_000709.3:c.776C>T	NP_000700.1:p.Pro259Leu
NM_001164783.1:c.776C>T	NP_001158255.1:p.Pro259Leu
NM_000709.4:c.776C>T MANE Select	NP_000700.1:p.Pro259Leu
NM_001164783.2:c.776C>T	NP_001158255.1:p.Pro259Leu