Canonical Allele Identifier: CA406013757

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928913C>A (hg19) ; chr19:g.41423008C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423008C>A , CM000681.2:g.41423008C>A	GRCh38
NC_000019.9:g.41928913C>A , CM000681.1:g.41928913C>A	GRCh37
NC_000019.8:g.46620753C>A	NCBI36
NG_013004.1:g.30220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1006C>A MANE Select	ENSP00000269980.2:p.His336Asn
ENST00000269980.6:c.1006C>A	ENSP00000269980.2:p.His336Asn
ENST00000457836.6:c.1015C>A	ENSP00000416000.2:p.His339Asn
ENST00000540732.3:c.1108C>A	ENSP00000443246.1:p.His370Asn
ENST00000542943.5:c.919C>A	ENSP00000440345.1:p.His307Asn
ENST00000595085.5:c.922+311C>A	ENSP00000471150.2:n.922+311C>A
NM_000709.3:c.1006C>A	NP_000700.1:p.His336Asn
NM_001164783.1:c.1003C>A	NP_001158255.1:p.His335Asn
NM_000709.4:c.1006C>A MANE Select	NP_000700.1:p.His336Asn
NM_001164783.2:c.1003C>A	NP_001158255.1:p.His335Asn