Canonical Allele Identifier: CA406008172

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41920029A>C (hg19) ; chr19:g.41414124A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414124A>C , CM000681.2:g.41414124A>C	GRCh38
NC_000019.9:g.41920029A>C , CM000681.1:g.41920029A>C	GRCh37
NC_000019.8:g.46611869A>C	NCBI36
NG_013004.1:g.21336A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.451A>C MANE Select	ENSP00000269980.2:p.Thr151Pro
ENST00000269980.6:c.451A>C	ENSP00000269980.2:p.Thr151Pro
ENST00000457836.6:c.385A>C	ENSP00000416000.2:p.Thr129Pro
ENST00000538423.5:n.577A>C
ENST00000540732.3:c.553A>C	ENSP00000443246.1:p.Thr185Pro
ENST00000541315.1:c.258A>C
ENST00000542943.5:c.364A>C	ENSP00000440345.1:p.Thr122Pro
ENST00000595085.5:c.451A>C	ENSP00000471150.2:p.Thr151Pro
NM_000709.3:c.451A>C	NP_000700.1:p.Thr151Pro
NM_001164783.1:c.451A>C	NP_001158255.1:p.Thr151Pro
NM_000709.4:c.451A>C MANE Select	NP_000700.1:p.Thr151Pro
NM_001164783.2:c.451A>C	NP_001158255.1:p.Thr151Pro