Canonical Allele Identifier: CA406013526

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928665A>T (hg19) ; chr19:g.41422760A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422760A>T , CM000681.2:g.41422760A>T	GRCh38
NC_000019.9:g.41928665A>T , CM000681.1:g.41928665A>T	GRCh37
NC_000019.8:g.46620505A>T	NCBI36
NG_013004.1:g.29972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.985A>T MANE Select	ENSP00000269980.2:p.Met329Leu
ENST00000269980.6:c.985A>T	ENSP00000269980.2:p.Met329Leu
ENST00000457836.6:c.919A>T	ENSP00000416000.2:p.Met307Leu
ENST00000535632.5:n.614A>T
ENST00000540732.3:c.1087A>T	ENSP00000443246.1:p.Met363Leu
ENST00000542943.5:c.898A>T	ENSP00000440345.1:p.Met300Leu
ENST00000595085.5:c.922+63A>T	ENSP00000471150.2:n.922+63A>T
NM_000709.3:c.985A>T	NP_000700.1:p.Met329Leu
NM_001164783.1:c.982A>T	NP_001158255.1:p.Met328Leu
NM_000709.4:c.985A>T MANE Select	NP_000700.1:p.Met329Leu
NM_001164783.2:c.982A>T	NP_001158255.1:p.Met328Leu