Canonical Allele Identifier: CA9461277

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1187358
• ClinVar RCV Id: RCV001546773
• dbSNP Id: rs150511115
• ExAC: 19:41928305 C / T
• gnomAD v2: 19-41928305-C-T
• gnomAD v3: 19-41422400-C-T
• gnomAD v4: 19-41422400-C-T
• MyVariant Identifiers: chr19:g.41928305C>T (hg19) ; chr19:g.41422400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422400C>T , CM000681.2:g.41422400C>T	GRCh38
NC_000019.9:g.41928305C>T , CM000681.1:g.41928305C>T	GRCh37
NC_000019.8:g.46620145C>T	NCBI36
NG_013004.1:g.29612C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.853+30C>T MANE Select	ENSP00000269980.2:n.853+30C>T
ENST00000269980.6:c.853+30C>T	ENSP00000269980.2:n.853+30C>T
ENST00000457836.6:c.787+30C>T	ENSP00000416000.2:n.787+30C>T
ENST00000535632.5:n.482+30C>T
ENST00000540732.3:c.955+30C>T	ENSP00000443246.1:n.955+30C>T
ENST00000542943.5:c.766+30C>T	ENSP00000440345.1:n.766+30C>T
ENST00000545787.1:n.481+30C>T
ENST00000595085.5:c.853+30C>T	ENSP00000471150.2:n.853+30C>T
NM_000709.3:c.853+30C>T	NP_000700.1:n.853+30C>T
NM_001164783.1:c.853+30C>T	NP_001158255.1:n.853+30C>T
NM_000709.4:c.853+30C>T MANE Select	NP_000700.1:n.853+30C>T
NM_001164783.2:c.853+30C>T	NP_001158255.1:n.853+30C>T