Canonical Allele Identifier: CA406013820

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928940T>A (hg19) ; chr19:g.41423035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423035T>A , CM000681.2:g.41423035T>A	GRCh38
NC_000019.9:g.41928940T>A , CM000681.1:g.41928940T>A	GRCh37
NC_000019.8:g.46620780T>A	NCBI36
NG_013004.1:g.30247T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1033T>A MANE Select	ENSP00000269980.2:p.Tyr345Asn
ENST00000269980.6:c.1033T>A	ENSP00000269980.2:p.Tyr345Asn
ENST00000457836.6:c.1042T>A	ENSP00000416000.2:p.Tyr348Asn
ENST00000540732.3:c.1135T>A	ENSP00000443246.1:p.Tyr379Asn
ENST00000542943.5:c.946T>A	ENSP00000440345.1:p.Tyr316Asn
ENST00000595085.5:c.922+338T>A	ENSP00000471150.2:n.922+338T>A
NM_000709.3:c.1033T>A	NP_000700.1:p.Tyr345Asn
NM_001164783.1:c.1030T>A	NP_001158255.1:p.Tyr344Asn
NM_000709.4:c.1033T>A MANE Select	NP_000700.1:p.Tyr345Asn
NM_001164783.2:c.1030T>A	NP_001158255.1:p.Tyr344Asn