Canonical Allele Identifier: CA507690787

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41423031-A-G
• COSMIC: COSM1283643
• MyVariant Identifiers: chr19:g.41928936A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423031A>G , CM000681.2:g.41423031A>G	GRCh38
NC_000019.9:g.41928936A>G , CM000681.1:g.41928936A>G	GRCh37
NC_000019.8:g.46620776A>G	NCBI36
NG_013004.1:g.30243A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1029A>G MANE Select	ENSP00000269980.2:p.Ser343=
ENST00000269980.6:c.1029A>G	ENSP00000269980.2:p.Ser343=
ENST00000457836.6:c.1038A>G	ENSP00000416000.2:p.Ser346=
ENST00000540732.3:c.1131A>G	ENSP00000443246.1:p.Ser377=
ENST00000542943.5:c.942A>G	ENSP00000440345.1:p.Ser314=
ENST00000595085.5:c.922+334A>G	ENSP00000471150.2:n.922+334A>G
NM_000709.3:c.1029A>G	NP_000700.1:p.Ser343=
NM_001164783.1:c.1026A>G	NP_001158255.1:p.Ser342=
NM_000709.4:c.1029A>G MANE Select	NP_000700.1:p.Ser343=
NM_001164783.2:c.1026A>G	NP_001158255.1:p.Ser342=