Canonical Allele Identifier: CA9461336

Gene: BCKDHA

Linked Data

• dbSNP Id: rs747930831
• ExAC: 19:41928815 C / T
• gnomAD v2: 19-41928815-C-T
• gnomAD v3: 19-41422910-C-T
• gnomAD v4: 19-41422910-C-T
• MyVariant Identifiers: chr19:g.41928815C>T (hg19) ; chr19:g.41422910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422910C>T , CM000681.2:g.41422910C>T	GRCh38
NC_000019.9:g.41928815C>T , CM000681.1:g.41928815C>T	GRCh37
NC_000019.8:g.46620655C>T	NCBI36
NG_013004.1:g.30122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-88C>T MANE Select	ENSP00000269980.2:n.996-88C>T
ENST00000269980.6:c.996-88C>T	ENSP00000269980.2:n.996-88C>T
ENST00000457836.6:c.930-13C>T	ENSP00000416000.2:n.930-13C>T
ENST00000540732.3:c.1098-88C>T	ENSP00000443246.1:n.1098-88C>T
ENST00000542943.5:c.909-88C>T	ENSP00000440345.1:n.909-88C>T
ENST00000595085.5:c.922+213C>T	ENSP00000471150.2:n.922+213C>T
NM_000709.3:c.996-88C>T	NP_000700.1:n.996-88C>T
NM_001164783.1:c.993-88C>T	NP_001158255.1:n.993-88C>T
NM_000709.4:c.996-88C>T MANE Select	NP_000700.1:n.996-88C>T
NM_001164783.2:c.993-88C>T	NP_001158255.1:n.993-88C>T