Canonical Allele Identifier: CA507690310

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2993822
• ClinVar RCV Id: RCV003853397
• gnomAD v4: 19-41422174-G-C
• MyVariant Identifiers: chr19:g.41928079G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422174G>C , CM000681.2:g.41422174G>C	GRCh38
NC_000019.9:g.41928079G>C , CM000681.1:g.41928079G>C	GRCh37
NC_000019.8:g.46619919G>C	NCBI36
NG_013004.1:g.29386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.657G>C MANE Select	ENSP00000269980.2:p.Ala219=
ENST00000269980.6:c.657G>C	ENSP00000269980.2:p.Ala219=
ENST00000457836.6:c.591G>C	ENSP00000416000.2:p.Ala197=
ENST00000535632.5:n.286G>C
ENST00000538423.5:n.783G>C
ENST00000540732.3:c.759G>C	ENSP00000443246.1:p.Ala253=
ENST00000541315.1:c.557G>C
ENST00000542943.5:c.570G>C	ENSP00000440345.1:p.Ala190=
ENST00000545787.1:n.285G>C
ENST00000595085.5:c.657G>C	ENSP00000471150.2:p.Ala219=
NM_000709.3:c.657G>C	NP_000700.1:p.Ala219=
NM_001164783.1:c.657G>C	NP_001158255.1:p.Ala219=
NM_000709.4:c.657G>C MANE Select	NP_000700.1:p.Ala219=
NM_001164783.2:c.657G>C	NP_001158255.1:p.Ala219=