Canonical Allele Identifier: CA507690757

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422741-G-A
• MyVariant Identifiers: chr19:g.41928646G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422741G>A , CM000681.2:g.41422741G>A	GRCh38
NC_000019.9:g.41928646G>A , CM000681.1:g.41928646G>A	GRCh37
NC_000019.8:g.46620486G>A	NCBI36
NG_013004.1:g.29953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.966G>A MANE Select	ENSP00000269980.2:p.Gln322=
ENST00000269980.6:c.966G>A	ENSP00000269980.2:p.Gln322=
ENST00000457836.6:c.900G>A	ENSP00000416000.2:p.Gln300=
ENST00000535632.5:n.595G>A
ENST00000540732.3:c.1068G>A	ENSP00000443246.1:p.Gln356=
ENST00000542943.5:c.879G>A	ENSP00000440345.1:p.Gln293=
ENST00000595085.5:c.922+44G>A	ENSP00000471150.2:n.922+44G>A
NM_000709.3:c.966G>A	NP_000700.1:p.Gln322=
NM_001164783.1:c.963G>A	NP_001158255.1:p.Gln321=
NM_000709.4:c.966G>A MANE Select	NP_000700.1:p.Gln322=
NM_001164783.2:c.963G>A	NP_001158255.1:p.Gln321=