Canonical Allele Identifier: CA308524625

Gene: BCKDHA

Linked Data

• dbSNP Id: rs543803090
• gnomAD v3: 19-41422532-A-T
• gnomAD v4: 19-41422532-A-T
• MyVariant Identifiers: chr19:g.41928437A>T (hg19) ; chr19:g.41422532A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422532A>T , CM000681.2:g.41422532A>T	GRCh38
NC_000019.9:g.41928437A>T , CM000681.1:g.41928437A>T	GRCh37
NC_000019.8:g.46620277A>T	NCBI36
NG_013004.1:g.29744A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.854-97A>T MANE Select	ENSP00000269980.2:n.854-97A>T
ENST00000269980.6:c.854-97A>T	ENSP00000269980.2:n.854-97A>T
ENST00000457836.6:c.788-97A>T	ENSP00000416000.2:n.788-97A>T
ENST00000535632.5:n.483-97A>T
ENST00000540732.3:c.956-97A>T	ENSP00000443246.1:n.956-97A>T
ENST00000542943.5:c.767-97A>T	ENSP00000440345.1:n.767-97A>T
ENST00000545787.1:n.482-97A>T
ENST00000595085.5:c.854-97A>T	ENSP00000471150.2:n.854-97A>T
NM_000709.3:c.854-97A>T	NP_000700.1:n.854-97A>T
NM_001164783.1:c.854-100A>T	NP_001158255.1:n.854-100A>T
NM_000709.4:c.854-97A>T MANE Select	NP_000700.1:n.854-97A>T
NM_001164783.2:c.854-100A>T	NP_001158255.1:n.854-100A>T