Canonical Allele Identifier: CA406013819

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928938C>G (hg19) ; chr19:g.41423033C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423033C>G , CM000681.2:g.41423033C>G	GRCh38
NC_000019.9:g.41928938C>G , CM000681.1:g.41928938C>G	GRCh37
NC_000019.8:g.46620778C>G	NCBI36
NG_013004.1:g.30245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1031C>G MANE Select	ENSP00000269980.2:p.Ala344Gly
ENST00000269980.6:c.1031C>G	ENSP00000269980.2:p.Ala344Gly
ENST00000457836.6:c.1040C>G	ENSP00000416000.2:p.Ala347Gly
ENST00000540732.3:c.1133C>G	ENSP00000443246.1:p.Ala378Gly
ENST00000542943.5:c.944C>G	ENSP00000440345.1:p.Ala315Gly
ENST00000595085.5:c.922+336C>G	ENSP00000471150.2:n.922+336C>G
NM_000709.3:c.1031C>G	NP_000700.1:p.Ala344Gly
NM_001164783.1:c.1028C>G	NP_001158255.1:p.Ala343Gly
NM_000709.4:c.1031C>G MANE Select	NP_000700.1:p.Ala344Gly
NM_001164783.2:c.1028C>G	NP_001158255.1:p.Ala343Gly