Canonical Allele Identifier: CA406013790

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928926A>C (hg19) ; chr19:g.41423021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423021A>C , CM000681.2:g.41423021A>C	GRCh38
NC_000019.9:g.41928926A>C , CM000681.1:g.41928926A>C	GRCh37
NC_000019.8:g.46620766A>C	NCBI36
NG_013004.1:g.30233A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1019A>C MANE Select	ENSP00000269980.2:p.Asp340Ala
ENST00000269980.6:c.1019A>C	ENSP00000269980.2:p.Asp340Ala
ENST00000457836.6:c.1028A>C	ENSP00000416000.2:p.Asp343Ala
ENST00000540732.3:c.1121A>C	ENSP00000443246.1:p.Asp374Ala
ENST00000542943.5:c.932A>C	ENSP00000440345.1:p.Asp311Ala
ENST00000595085.5:c.922+324A>C	ENSP00000471150.2:n.922+324A>C
NM_000709.3:c.1019A>C	NP_000700.1:p.Asp340Ala
NM_001164783.1:c.1016A>C	NP_001158255.1:p.Asp339Ala
NM_000709.4:c.1019A>C MANE Select	NP_000700.1:p.Asp340Ala
NM_001164783.2:c.1016A>C	NP_001158255.1:p.Asp339Ala