Canonical Allele Identifier: CA891843543

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41397940G>C , CM000681.2:g.41397940G>C	GRCh38
NC_000019.9:g.41903845G>C , CM000681.1:g.41903845G>C	GRCh37
NC_000019.8:g.46595685G>C	NCBI36
NG_013004.1:g.5152G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.108+5G>C MANE Select	NP_000700.1:n.108+5G>C
ENST00000269980.7:c.108+5G>C MANE Select	ENSP00000269980.2:n.108+5G>C
NM_000709.3:c.108+5G>C	NP_000700.1:n.108+5G>C
NM_001164783.1:c.108+5G>C	NP_001158255.1:n.108+5G>C
NM_001164783.2:c.108+5G>C	NP_001158255.1:n.108+5G>C
ENST00000269980.6:c.108+5G>C	ENSP00000269980.2:n.108+5G>C
ENST00000457836.6:c.57+56G>C	ENSP00000416000.2:n.57+56G>C
ENST00000538423.5:n.128+5G>C
ENST00000540732.3:c.211-12697G>C	ENSP00000443246.1:n.211-12697G>C
ENST00000542943.5:c.108+5G>C	ENSP00000440345.1:n.108+5G>C
ENST00000595085.5:c.108+5G>C	ENSP00000471150.2:n.108+5G>C
ENST00000604424.1:n.351-12697G>C