Canonical Allele Identifier: CA507690348

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1936642
• ClinVar RCV Id: RCV002627444
• dbSNP Id: rs1188999814
• gnomAD v2: 19-41928094-G-A
• gnomAD v3: 19-41422189-G-A
• gnomAD v4: 19-41422189-G-A
• MyVariant Identifiers: chr19:g.41928094G>A (hg19) ; chr19:g.41422189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422189G>A , CM000681.2:g.41422189G>A	GRCh38
NC_000019.9:g.41928094G>A , CM000681.1:g.41928094G>A	GRCh37
NC_000019.8:g.46619934G>A	NCBI36
NG_013004.1:g.29401G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.672G>A MANE Select	ENSP00000269980.2:p.Lys224=
ENST00000269980.6:c.672G>A	ENSP00000269980.2:p.Lys224=
ENST00000457836.6:c.606G>A	ENSP00000416000.2:p.Lys202=
ENST00000535632.5:n.301G>A
ENST00000538423.5:n.798G>A
ENST00000540732.3:c.774G>A	ENSP00000443246.1:p.Lys258=
ENST00000541315.1:c.572G>A
ENST00000542943.5:c.585G>A	ENSP00000440345.1:p.Lys195=
ENST00000545787.1:n.300G>A
ENST00000595085.5:c.672G>A	ENSP00000471150.2:p.Lys224=
NM_000709.3:c.672G>A	NP_000700.1:p.Lys224=
NM_001164783.1:c.672G>A	NP_001158255.1:p.Lys224=
NM_000709.4:c.672G>A MANE Select	NP_000700.1:p.Lys224=
NM_001164783.2:c.672G>A	NP_001158255.1:p.Lys224=