Canonical Allele Identifier: CA633165027

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1404215566
• gnomAD v2: 19-41916774-C-T
• gnomAD v3: 19-41410869-C-T
• gnomAD v4: 19-41410869-C-T
• MyVariant Identifiers: chr19:g.41916774C>T (hg19) ; chr19:g.41410869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410869C>T , CM000681.2:g.41410869C>T	GRCh38
NC_000019.9:g.41916774C>T , CM000681.1:g.41916774C>T	GRCh37
NC_000019.8:g.46608614C>T	NCBI36
NG_013004.1:g.18081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.289-54C>T MANE Select	ENSP00000269980.2:n.289-54C>T
ENST00000269980.6:c.289-54C>T	ENSP00000269980.2:n.289-54C>T
ENST00000457836.6:c.223-54C>T	ENSP00000416000.2:n.223-54C>T
ENST00000538423.5:n.361C>T
ENST00000540732.3:c.391-54C>T	ENSP00000443246.1:n.391-54C>T
ENST00000541315.1:c.96-54C>T
ENST00000542943.5:c.288+53C>T	ENSP00000440345.1:n.288+53C>T
ENST00000595085.5:c.289-54C>T	ENSP00000471150.2:n.289-54C>T
NM_000709.3:c.289-54C>T	NP_000700.1:n.289-54C>T
NM_001164783.1:c.289-54C>T	NP_001158255.1:n.289-54C>T
NM_000709.4:c.289-54C>T MANE Select	NP_000700.1:n.289-54C>T
NM_001164783.2:c.289-54C>T	NP_001158255.1:n.289-54C>T