Canonical Allele Identifier: CA406008012

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1459747524
• gnomAD v2: 19-41920008-A-C
• gnomAD v4: 19-41414103-A-C
• MyVariant Identifiers: chr19:g.41920008A>C (hg19) ; chr19:g.41414103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414103A>C , CM000681.2:g.41414103A>C	GRCh38
NC_000019.9:g.41920008A>C , CM000681.1:g.41920008A>C	GRCh37
NC_000019.8:g.46611848A>C	NCBI36
NG_013004.1:g.21315A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.430A>C MANE Select	ENSP00000269980.2:p.Ser144Arg
ENST00000269980.6:c.430A>C	ENSP00000269980.2:p.Ser144Arg
ENST00000457836.6:c.364A>C	ENSP00000416000.2:p.Ser122Arg
ENST00000538423.5:n.556A>C
ENST00000540732.3:c.532A>C	ENSP00000443246.1:p.Ser178Arg
ENST00000541315.1:c.237A>C
ENST00000542943.5:c.343A>C	ENSP00000440345.1:p.Ser115Arg
ENST00000595085.5:c.430A>C	ENSP00000471150.2:p.Ser144Arg
NM_000709.3:c.430A>C	NP_000700.1:p.Ser144Arg
NM_001164783.1:c.430A>C	NP_001158255.1:p.Ser144Arg
NM_000709.4:c.430A>C MANE Select	NP_000700.1:p.Ser144Arg
NM_001164783.2:c.430A>C	NP_001158255.1:p.Ser144Arg