Canonical Allele Identifier: CA507690525

Gene: BCKDHA

Linked Data

• dbSNP Id: rs137960127
• gnomAD v4: 19-41422261-C-A
• MyVariant Identifiers: chr19:g.41928166C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422261C>A , CM000681.2:g.41422261C>A	GRCh38
NC_000019.9:g.41928166C>A , CM000681.1:g.41928166C>A	GRCh37
NC_000019.8:g.46620006C>A	NCBI36
NG_013004.1:g.29473C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.744C>A MANE Select	ENSP00000269980.2:p.Ala248=
ENST00000269980.6:c.744C>A	ENSP00000269980.2:p.Ala248=
ENST00000457836.6:c.678C>A	ENSP00000416000.2:p.Ala226=
ENST00000535632.5:n.373C>A
ENST00000540732.3:c.846C>A	ENSP00000443246.1:p.Ala282=
ENST00000542943.5:c.657C>A	ENSP00000440345.1:p.Ala219=
ENST00000545787.1:n.372C>A
ENST00000595085.5:c.744C>A	ENSP00000471150.2:p.Ala248=
NM_000709.3:c.744C>A	NP_000700.1:p.Ala248=
NM_001164783.1:c.744C>A	NP_001158255.1:p.Ala248=
NM_000709.4:c.744C>A MANE Select	NP_000700.1:p.Ala248=
NM_001164783.2:c.744C>A	NP_001158255.1:p.Ala248=