Canonical Allele Identifier: CA9461253

Gene: BCKDHA

Linked Data

• dbSNP Id: rs748382347
• ExAC: 19:41928174 A / G
• gnomAD v2: 19-41928174-A-G
• gnomAD v4: 19-41422269-A-G
• MyVariant Identifiers: chr19:g.41928174A>G (hg19) ; chr19:g.41422269A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422269A>G , CM000681.2:g.41422269A>G	GRCh38
NC_000019.9:g.41928174A>G , CM000681.1:g.41928174A>G	GRCh37
NC_000019.8:g.46620014A>G	NCBI36
NG_013004.1:g.29481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.752A>G MANE Select	ENSP00000269980.2:p.Asn251Ser
ENST00000269980.6:c.752A>G	ENSP00000269980.2:p.Asn251Ser
ENST00000457836.6:c.686A>G	ENSP00000416000.2:p.Asn229Ser
ENST00000535632.5:n.381A>G
ENST00000540732.3:c.854A>G	ENSP00000443246.1:p.Asn285Ser
ENST00000542943.5:c.665A>G	ENSP00000440345.1:p.Asn222Ser
ENST00000545787.1:n.380A>G
ENST00000595085.5:c.752A>G	ENSP00000471150.2:p.Asn251Ser
NM_000709.3:c.752A>G	NP_000700.1:p.Asn251Ser
NM_001164783.1:c.752A>G	NP_001158255.1:p.Asn251Ser
NM_000709.4:c.752A>G MANE Select	NP_000700.1:p.Asn251Ser
NM_001164783.2:c.752A>G	NP_001158255.1:p.Asn251Ser