Canonical Allele Identifier: CA507560691

Gene: BCKDHA

Linked Data

• dbSNP Id: rs147021347
• gnomAD v2: 19-41930426-C-G
• gnomAD v4: 19-41424521-C-G
• MyVariant Identifiers: chr19:g.41930426C>G (hg19) ; chr19:g.41424521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424521C>G , CM000681.2:g.41424521C>G	GRCh38
NC_000019.9:g.41930426C>G , CM000681.1:g.41930426C>G	GRCh37
NC_000019.8:g.46622266C>G	NCBI36
NG_013004.1:g.31733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1251C>G MANE Select	ENSP00000269980.2:p.Pro417=
ENST00000269980.6:c.1251C>G	ENSP00000269980.2:p.Pro417=
ENST00000457836.6:c.1260C>G	ENSP00000416000.2:p.Pro420=
ENST00000540732.3:c.1353C>G	ENSP00000443246.1:p.Pro451=
ENST00000544905.1:c.81C>G
ENST00000595085.5:c.922+1824C>G	ENSP00000471150.2:n.922+1824C>G
NM_000709.3:c.1251C>G	NP_000700.1:p.Pro417=
NM_001164783.1:c.1248C>G	NP_001158255.1:p.Pro416=
NM_000709.4:c.1251C>G MANE Select	NP_000700.1:p.Pro417=
NM_001164783.2:c.1248C>G	NP_001158255.1:p.Pro416=