Canonical Allele Identifier: CA406015609

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930470A>T (hg19) ; chr19:g.41424565A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424565A>T , CM000681.2:g.41424565A>T	GRCh38
NC_000019.9:g.41930470A>T , CM000681.1:g.41930470A>T	GRCh37
NC_000019.8:g.46622310A>T	NCBI36
NG_013004.1:g.31777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1295A>T MANE Select	ENSP00000269980.2:p.Gln432Leu
ENST00000269980.6:c.1295A>T	ENSP00000269980.2:p.Gln432Leu
ENST00000457836.6:c.1304A>T	ENSP00000416000.2:p.Gln435Leu
ENST00000540732.3:c.1397A>T	ENSP00000443246.1:p.Gln466Leu
ENST00000544905.1:c.125A>T
ENST00000595085.5:c.922+1868A>T	ENSP00000471150.2:n.922+1868A>T
NM_000709.3:c.1295A>T	NP_000700.1:p.Gln432Leu
NM_001164783.1:c.1292A>T	NP_001158255.1:p.Gln431Leu
NM_000709.4:c.1295A>T MANE Select	NP_000700.1:p.Gln432Leu
NM_001164783.2:c.1292A>T	NP_001158255.1:p.Gln431Leu