Canonical Allele Identifier: CA507690282

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2047872
• ClinVar RCV Id: RCV002918369
• gnomAD v4: 19-41422165-G-C
• MyVariant Identifiers: chr19:g.41928070G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422165G>C , CM000681.2:g.41422165G>C	GRCh38
NC_000019.9:g.41928070G>C , CM000681.1:g.41928070G>C	GRCh37
NC_000019.8:g.46619910G>C	NCBI36
NG_013004.1:g.29377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.648G>C MANE Select	ENSP00000269980.2:p.Ala216=
ENST00000269980.6:c.648G>C	ENSP00000269980.2:p.Ala216=
ENST00000457836.6:c.582G>C	ENSP00000416000.2:p.Ala194=
ENST00000535632.5:n.277G>C
ENST00000538423.5:n.774G>C
ENST00000540732.3:c.750G>C	ENSP00000443246.1:p.Ala250=
ENST00000541315.1:c.548G>C
ENST00000542943.5:c.561G>C	ENSP00000440345.1:p.Ala187=
ENST00000545787.1:n.276G>C
ENST00000595085.5:c.648G>C	ENSP00000471150.2:p.Ala216=
NM_000709.3:c.648G>C	NP_000700.1:p.Ala216=
NM_001164783.1:c.648G>C	NP_001158255.1:p.Ala216=
NM_000709.4:c.648G>C MANE Select	NP_000700.1:p.Ala216=
NM_001164783.2:c.648G>C	NP_001158255.1:p.Ala216=