Canonical Allele Identifier: CA882351715

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1423953248
• gnomAD v3: 19-41424317-CA-C
• gnomAD v4: 19-41424317-CA-C
• MyVariant Identifiers: chr19:g.41930223del (hg19) ; chr19:g.41424318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424318del , CM000681.2:g.41424318del	GRCh38
NC_000019.9:g.41930223del , CM000681.1:g.41930223del	GRCh37
NC_000019.8:g.46622063del	NCBI36
NG_013004.1:g.31530del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1168-120del MANE Select	ENSP00000269980.2:n.1168-120del
ENST00000269980.6:c.1168-120del	ENSP00000269980.2:n.1168-120del
ENST00000457836.6:c.1177-120del	ENSP00000416000.2:n.1177-120del
ENST00000540732.3:c.1270-120del	ENSP00000443246.1:n.1270-120del
ENST00000544905.1:c.62-184del
ENST00000595085.5:c.922+1621del	ENSP00000471150.2:n.922+1621del
NM_000709.3:c.1168-120del	NP_000700.1:n.1168-120del
NM_001164783.1:c.1165-120del	NP_001158255.1:n.1165-120del
NM_000709.4:c.1168-120del MANE Select	NP_000700.1:n.1168-120del
NM_001164783.2:c.1165-120del	NP_001158255.1:n.1165-120del