Canonical Allele Identifier: CA507690770

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41423004-G-T
• MyVariant Identifiers: chr19:g.41928909G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423004G>T , CM000681.2:g.41423004G>T	GRCh38
NC_000019.9:g.41928909G>T , CM000681.1:g.41928909G>T	GRCh37
NC_000019.8:g.46620749G>T	NCBI36
NG_013004.1:g.30216G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1002G>T MANE Select	ENSP00000269980.2:p.Gly334=
ENST00000269980.6:c.1002G>T	ENSP00000269980.2:p.Gly334=
ENST00000457836.6:c.1011G>T	ENSP00000416000.2:p.Gly337=
ENST00000540732.3:c.1104G>T	ENSP00000443246.1:p.Gly368=
ENST00000542943.5:c.915G>T	ENSP00000440345.1:p.Gly305=
ENST00000595085.5:c.922+307G>T	ENSP00000471150.2:n.922+307G>T
NM_000709.3:c.1002G>T	NP_000700.1:p.Gly334=
NM_001164783.1:c.999G>T	NP_001158255.1:p.Gly333=
NM_000709.4:c.1002G>T MANE Select	NP_000700.1:p.Gly334=
NM_001164783.2:c.999G>T	NP_001158255.1:p.Gly333=