Canonical Allele Identifier: CA406013478

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928643C>A (hg19) ; chr19:g.41422738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422738C>A , CM000681.2:g.41422738C>A	GRCh38
NC_000019.9:g.41928643C>A , CM000681.1:g.41928643C>A	GRCh37
NC_000019.8:g.46620483C>A	NCBI36
NG_013004.1:g.29950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.963C>A MANE Select	ENSP00000269980.2:p.Asn321Lys
ENST00000269980.6:c.963C>A	ENSP00000269980.2:p.Asn321Lys
ENST00000457836.6:c.897C>A	ENSP00000416000.2:p.Asn299Lys
ENST00000535632.5:n.592C>A
ENST00000540732.3:c.1065C>A	ENSP00000443246.1:p.Asn355Lys
ENST00000542943.5:c.876C>A	ENSP00000440345.1:p.Asn292Lys
ENST00000595085.5:c.922+41C>A	ENSP00000471150.2:n.922+41C>A
NM_000709.3:c.963C>A	NP_000700.1:p.Asn321Lys
NM_001164783.1:c.960C>A	NP_001158255.1:p.Asn320Lys
NM_000709.4:c.963C>A MANE Select	NP_000700.1:p.Asn321Lys
NM_001164783.2:c.960C>A	NP_001158255.1:p.Asn320Lys