Canonical Allele Identifier: CA507555387

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1112565
• ClinVar RCV Id: RCV001439615
• dbSNP Id: rs1342568998
• gnomAD v2: 19-41916571-A-T
• gnomAD v4: 19-41410666-A-T
• MyVariant Identifiers: chr19:g.41916571A>T (hg19) ; chr19:g.41410666A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410666A>T , CM000681.2:g.41410666A>T	GRCh38
NC_000019.9:g.41916571A>T , CM000681.1:g.41916571A>T	GRCh37
NC_000019.8:g.46608411A>T	NCBI36
NG_013004.1:g.17878A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.138A>T MANE Select	ENSP00000269980.2:p.Ser46=
ENST00000269980.6:c.138A>T	ENSP00000269980.2:p.Ser46=
ENST00000457836.6:c.72A>T	ENSP00000416000.2:p.Ser24=
ENST00000538423.5:n.158A>T
ENST00000540732.3:c.240A>T	ENSP00000443246.1:p.Ser80=
ENST00000542943.5:c.138A>T	ENSP00000440345.1:p.Ser46=
ENST00000595085.5:c.138A>T	ENSP00000471150.2:p.Ser46=
ENST00000604424.1:n.380A>T
NM_000709.3:c.138A>T	NP_000700.1:p.Ser46=
NM_001164783.1:c.138A>T	NP_001158255.1:p.Ser46=
NM_000709.4:c.138A>T MANE Select	NP_000700.1:p.Ser46=
NM_001164783.2:c.138A>T	NP_001158255.1:p.Ser46=