Canonical Allele Identifier: CA406013473

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928641A>G (hg19) ; chr19:g.41422736A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422736A>G , CM000681.2:g.41422736A>G	GRCh38
NC_000019.9:g.41928641A>G , CM000681.1:g.41928641A>G	GRCh37
NC_000019.8:g.46620481A>G	NCBI36
NG_013004.1:g.29948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.961A>G MANE Select	ENSP00000269980.2:p.Asn321Asp
ENST00000269980.6:c.961A>G	ENSP00000269980.2:p.Asn321Asp
ENST00000457836.6:c.895A>G	ENSP00000416000.2:p.Asn299Asp
ENST00000535632.5:n.590A>G
ENST00000540732.3:c.1063A>G	ENSP00000443246.1:p.Asn355Asp
ENST00000542943.5:c.874A>G	ENSP00000440345.1:p.Asn292Asp
ENST00000595085.5:c.922+39A>G	ENSP00000471150.2:n.922+39A>G
NM_000709.3:c.961A>G	NP_000700.1:p.Asn321Asp
NM_001164783.1:c.958A>G	NP_001158255.1:p.Asn320Asp
NM_000709.4:c.961A>G MANE Select	NP_000700.1:p.Asn321Asp
NM_001164783.2:c.958A>G	NP_001158255.1:p.Asn320Asp