Canonical Allele Identifier: CA406013474

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928641A>T (hg19) ; chr19:g.41422736A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422736A>T , CM000681.2:g.41422736A>T	GRCh38
NC_000019.9:g.41928641A>T , CM000681.1:g.41928641A>T	GRCh37
NC_000019.8:g.46620481A>T	NCBI36
NG_013004.1:g.29948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.961A>T MANE Select	ENSP00000269980.2:p.Asn321Tyr
ENST00000269980.6:c.961A>T	ENSP00000269980.2:p.Asn321Tyr
ENST00000457836.6:c.895A>T	ENSP00000416000.2:p.Asn299Tyr
ENST00000535632.5:n.590A>T
ENST00000540732.3:c.1063A>T	ENSP00000443246.1:p.Asn355Tyr
ENST00000542943.5:c.874A>T	ENSP00000440345.1:p.Asn292Tyr
ENST00000595085.5:c.922+39A>T	ENSP00000471150.2:n.922+39A>T
NM_000709.3:c.961A>T	NP_000700.1:p.Asn321Tyr
NM_001164783.1:c.958A>T	NP_001158255.1:p.Asn320Tyr
NM_000709.4:c.961A>T MANE Select	NP_000700.1:p.Asn321Tyr
NM_001164783.2:c.958A>T	NP_001158255.1:p.Asn320Tyr