Canonical Allele Identifier: CA406006059

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916907A>T (hg19) ; chr19:g.41411002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411002A>T , CM000681.2:g.41411002A>T	GRCh38
NC_000019.9:g.41916907A>T , CM000681.1:g.41916907A>T	GRCh37
NC_000019.8:g.46608747A>T	NCBI36
NG_013004.1:g.18214A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.368A>T MANE Select	ENSP00000269980.2:p.Gln123Leu
ENST00000269980.6:c.368A>T	ENSP00000269980.2:p.Gln123Leu
ENST00000457836.6:c.302A>T	ENSP00000416000.2:p.Gln101Leu
ENST00000538423.5:n.494A>T
ENST00000540732.3:c.470A>T	ENSP00000443246.1:p.Gln157Leu
ENST00000541315.1:c.175A>T
ENST00000542943.5:c.288+186A>T	ENSP00000440345.1:n.288+186A>T
ENST00000595085.5:c.368A>T	ENSP00000471150.2:p.Gln123Leu
NM_000709.3:c.368A>T	NP_000700.1:p.Gln123Leu
NM_001164783.1:c.368A>T	NP_001158255.1:p.Gln123Leu
NM_000709.4:c.368A>T MANE Select	NP_000700.1:p.Gln123Leu
NM_001164783.2:c.368A>T	NP_001158255.1:p.Gln123Leu