Canonical Allele Identifier: CA406015337

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424482-C-A
• MyVariant Identifiers: chr19:g.41930387C>A (hg19) ; chr19:g.41424482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424482C>A , CM000681.2:g.41424482C>A	GRCh38
NC_000019.9:g.41930387C>A , CM000681.1:g.41930387C>A	GRCh37
NC_000019.8:g.46622227C>A	NCBI36
NG_013004.1:g.31694C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1212C>A MANE Select	ENSP00000269980.2:p.Asn404Lys
ENST00000269980.6:c.1212C>A	ENSP00000269980.2:p.Asn404Lys
ENST00000457836.6:c.1221C>A	ENSP00000416000.2:p.Asn407Lys
ENST00000540732.3:c.1314C>A	ENSP00000443246.1:p.Asn438Lys
ENST00000544905.1:c.62-20C>A
ENST00000595085.5:c.922+1785C>A	ENSP00000471150.2:n.922+1785C>A
NM_000709.3:c.1212C>A	NP_000700.1:p.Asn404Lys
NM_001164783.1:c.1209C>A	NP_001158255.1:p.Asn403Lys
NM_000709.4:c.1212C>A MANE Select	NP_000700.1:p.Asn404Lys
NM_001164783.2:c.1209C>A	NP_001158255.1:p.Asn403Lys