Canonical Allele Identifier: CA2739276841

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2819556
• ClinVar RCV Id: RCV003637191

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424428G>C , CM000681.2:g.41424428G>C	GRCh38
NC_000019.9:g.41930333G>C , CM000681.1:g.41930333G>C	GRCh37
NC_000019.8:g.46622173G>C	NCBI36
NG_013004.1:g.31640G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1168-10G>C MANE Select	ENSP00000269980.2:n.1168-10G>C
ENST00000269980.6:c.1168-10G>C	ENSP00000269980.2:n.1168-10G>C
ENST00000457836.6:c.1177-10G>C	ENSP00000416000.2:n.1177-10G>C
ENST00000540732.3:c.1270-10G>C	ENSP00000443246.1:n.1270-10G>C
ENST00000544905.1:c.62-74G>C
ENST00000595085.5:c.922+1731G>C	ENSP00000471150.2:n.922+1731G>C
NM_000709.3:c.1168-10G>C	NP_000700.1:n.1168-10G>C
NM_001164783.1:c.1165-10G>C	NP_001158255.1:n.1165-10G>C
NM_000709.4:c.1168-10G>C MANE Select	NP_000700.1:n.1168-10G>C
NM_001164783.2:c.1165-10G>C	NP_001158255.1:n.1165-10G>C