Canonical Allele Identifier: CA406013763

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1225690355
• gnomAD v2: 19-41928915-C-A
• gnomAD v4: 19-41423010-C-A
• MyVariant Identifiers: chr19:g.41928915C>A (hg19) ; chr19:g.41423010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423010C>A , CM000681.2:g.41423010C>A	GRCh38
NC_000019.9:g.41928915C>A , CM000681.1:g.41928915C>A	GRCh37
NC_000019.8:g.46620755C>A	NCBI36
NG_013004.1:g.30222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1008C>A MANE Select	ENSP00000269980.2:p.His336Gln
ENST00000269980.6:c.1008C>A	ENSP00000269980.2:p.His336Gln
ENST00000457836.6:c.1017C>A	ENSP00000416000.2:p.His339Gln
ENST00000540732.3:c.1110C>A	ENSP00000443246.1:p.His370Gln
ENST00000542943.5:c.921C>A	ENSP00000440345.1:p.His307Gln
ENST00000595085.5:c.922+313C>A	ENSP00000471150.2:n.922+313C>A
NM_000709.3:c.1008C>A	NP_000700.1:p.His336Gln
NM_001164783.1:c.1005C>A	NP_001158255.1:p.His335Gln
NM_000709.4:c.1008C>A MANE Select	NP_000700.1:p.His336Gln
NM_001164783.2:c.1005C>A	NP_001158255.1:p.His335Gln