Canonical Allele Identifier: CA406012723

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928103T>G (hg19) ; chr19:g.41422198T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422198T>G , CM000681.2:g.41422198T>G	GRCh38
NC_000019.9:g.41928103T>G , CM000681.1:g.41928103T>G	GRCh37
NC_000019.8:g.46619943T>G	NCBI36
NG_013004.1:g.29410T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.681T>G MANE Select	ENSP00000269980.2:p.Asn227Lys
ENST00000269980.6:c.681T>G	ENSP00000269980.2:p.Asn227Lys
ENST00000457836.6:c.615T>G	ENSP00000416000.2:p.Asn205Lys
ENST00000535632.5:n.310T>G
ENST00000538423.5:n.807T>G
ENST00000540732.3:c.783T>G	ENSP00000443246.1:p.Asn261Lys
ENST00000541315.1:c.581T>G
ENST00000542943.5:c.594T>G	ENSP00000440345.1:p.Asn198Lys
ENST00000545787.1:n.309T>G
ENST00000595085.5:c.681T>G	ENSP00000471150.2:p.Asn227Lys
NM_000709.3:c.681T>G	NP_000700.1:p.Asn227Lys
NM_001164783.1:c.681T>G	NP_001158255.1:p.Asn227Lys
NM_000709.4:c.681T>G MANE Select	NP_000700.1:p.Asn227Lys
NM_001164783.2:c.681T>G	NP_001158255.1:p.Asn227Lys