Canonical Allele Identifier: CA507690599

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1444043897
• gnomAD v4: 19-41422300-C-A
• MyVariant Identifiers: chr19:g.41928205C>A (hg19) ; chr19:g.41422300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422300C>A , CM000681.2:g.41422300C>A	GRCh38
NC_000019.9:g.41928205C>A , CM000681.1:g.41928205C>A	GRCh37
NC_000019.8:g.46620045C>A	NCBI36
NG_013004.1:g.29512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.783C>A MANE Select	ENSP00000269980.2:p.Ile261=
ENST00000269980.6:c.783C>A	ENSP00000269980.2:p.Ile261=
ENST00000457836.6:c.717C>A	ENSP00000416000.2:p.Ile239=
ENST00000535632.5:n.412C>A
ENST00000540732.3:c.885C>A	ENSP00000443246.1:p.Ile295=
ENST00000542943.5:c.696C>A	ENSP00000440345.1:p.Ile232=
ENST00000545787.1:n.411C>A
ENST00000595085.5:c.783C>A	ENSP00000471150.2:p.Ile261=
NM_000709.3:c.783C>A	NP_000700.1:p.Ile261=
NM_001164783.1:c.783C>A	NP_001158255.1:p.Ile261=
NM_000709.4:c.783C>A MANE Select	NP_000700.1:p.Ile261=
NM_001164783.2:c.783C>A	NP_001158255.1:p.Ile261=