Canonical Allele Identifier: CA406015165

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930348G>T (hg19) ; chr19:g.41424443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424443G>T , CM000681.2:g.41424443G>T	GRCh38
NC_000019.9:g.41930348G>T , CM000681.1:g.41930348G>T	GRCh37
NC_000019.8:g.46622188G>T	NCBI36
NG_013004.1:g.31655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1173G>T MANE Select	ENSP00000269980.2:p.Met391Ile
ENST00000269980.6:c.1173G>T	ENSP00000269980.2:p.Met391Ile
ENST00000457836.6:c.1182G>T	ENSP00000416000.2:p.Met394Ile
ENST00000540732.3:c.1275G>T	ENSP00000443246.1:p.Met425Ile
ENST00000544905.1:c.62-59G>T
ENST00000595085.5:c.922+1746G>T	ENSP00000471150.2:n.922+1746G>T
NM_000709.3:c.1173G>T	NP_000700.1:p.Met391Ile
NM_001164783.1:c.1170G>T	NP_001158255.1:p.Met390Ile
NM_000709.4:c.1173G>T MANE Select	NP_000700.1:p.Met391Ile
NM_001164783.2:c.1170G>T	NP_001158255.1:p.Met390Ile