Canonical Allele Identifier: CA14643324

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1181397
• ClinVar RCV Id: RCV001538771 ; RCV001554051
• dbSNP Id: rs284655
• gnomAD v2: 19-41928765-C-T
• gnomAD v3: 19-41422860-C-T
• gnomAD v4: 19-41422860-C-T
• MyVariant Identifiers: chr19:g.41928765C>T (hg19) ; chr19:g.41422860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422860C>T , CM000681.2:g.41422860C>T	GRCh38
NC_000019.9:g.41928765C>T , CM000681.1:g.41928765C>T	GRCh37
NC_000019.8:g.46620605C>T	NCBI36
NG_013004.1:g.30072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+90C>T MANE Select	ENSP00000269980.2:n.995+90C>T
ENST00000269980.6:c.995+90C>T	ENSP00000269980.2:n.995+90C>T
ENST00000457836.6:c.930-63C>T	ENSP00000416000.2:n.930-63C>T
ENST00000540732.3:c.1097+90C>T	ENSP00000443246.1:n.1097+90C>T
ENST00000542943.5:c.908+90C>T	ENSP00000440345.1:n.908+90C>T
ENST00000595085.5:c.922+163C>T	ENSP00000471150.2:n.922+163C>T
NM_000709.3:c.995+90C>T	NP_000700.1:n.995+90C>T
NM_001164783.1:c.992+90C>T	NP_001158255.1:n.992+90C>T
NM_000709.4:c.995+90C>T MANE Select	NP_000700.1:n.995+90C>T
NM_001164783.2:c.992+90C>T	NP_001158255.1:n.992+90C>T