Canonical Allele Identifier: CA406006155

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916916T>C (hg19) ; chr19:g.41411011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411011T>C , CM000681.2:g.41411011T>C	GRCh38
NC_000019.9:g.41916916T>C , CM000681.1:g.41916916T>C	GRCh37
NC_000019.8:g.46608756T>C	NCBI36
NG_013004.1:g.18223T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.375+2T>C MANE Select	ENSP00000269980.2:n.375+2T>C
ENST00000269980.6:c.375+2T>C	ENSP00000269980.2:n.375+2T>C
ENST00000457836.6:c.309+2T>C	ENSP00000416000.2:n.309+2T>C
ENST00000538423.5:n.501+2T>C
ENST00000540732.3:c.477+2T>C	ENSP00000443246.1:n.477+2T>C
ENST00000541315.1:c.182+2T>C
ENST00000542943.5:c.288+195T>C	ENSP00000440345.1:n.288+195T>C
ENST00000595085.5:c.375+2T>C	ENSP00000471150.2:n.375+2T>C
NM_000709.3:c.375+2T>C	NP_000700.1:n.375+2T>C
NM_001164783.1:c.375+2T>C	NP_001158255.1:n.375+2T>C
NM_000709.4:c.375+2T>C MANE Select	NP_000700.1:n.375+2T>C
NM_001164783.2:c.375+2T>C	NP_001158255.1:n.375+2T>C