Canonical Allele Identifier: CA9460955

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 329356
• ClinVar RCV Id: RCV000599925 ; RCV000396708
• dbSNP Id: rs202084220
• ExAC: 19:41903708 G / C
• gnomAD v2: 19-41903708-G-C
• gnomAD v3: 19-41397803-G-C
• gnomAD v4: 19-41397803-G-C
• MyVariant Identifiers: chr19:g.41903708G>C (hg19) ; chr19:g.41397803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41397803G>C , CM000681.2:g.41397803G>C	GRCh38
NC_000019.9:g.41903708G>C , CM000681.1:g.41903708G>C	GRCh37
NC_000019.8:g.46595548G>C	NCBI36
NG_013004.1:g.5015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.6:c.-25G>C	ENSP00000269980.2:n.-25G>C
ENST00000540732.3:c.211-12834G>C	ENSP00000443246.1:n.211-12834G>C
ENST00000595085.5:c.-25G>C	ENSP00000471150.2:n.-25G>C
ENST00000604424.1:n.351-12834G>C
NM_000709.3:c.-25G>C	NP_000700.1:n.-25G>C
NM_001164783.1:c.-25G>C	NP_001158255.1:n.-25G>C