Canonical Allele Identifier: CA507690318

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928082G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422177G>C , CM000681.2:g.41422177G>C	GRCh38
NC_000019.9:g.41928082G>C , CM000681.1:g.41928082G>C	GRCh37
NC_000019.8:g.46619922G>C	NCBI36
NG_013004.1:g.29389G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.660G>C MANE Select	ENSP00000269980.2:p.Ala220=
ENST00000269980.6:c.660G>C	ENSP00000269980.2:p.Ala220=
ENST00000457836.6:c.594G>C	ENSP00000416000.2:p.Ala198=
ENST00000535632.5:n.289G>C
ENST00000538423.5:n.786G>C
ENST00000540732.3:c.762G>C	ENSP00000443246.1:p.Ala254=
ENST00000541315.1:c.560G>C
ENST00000542943.5:c.573G>C	ENSP00000440345.1:p.Ala191=
ENST00000545787.1:n.288G>C
ENST00000595085.5:c.660G>C	ENSP00000471150.2:p.Ala220=
NM_000709.3:c.660G>C	NP_000700.1:p.Ala220=
NM_001164783.1:c.660G>C	NP_001158255.1:p.Ala220=
NM_000709.4:c.660G>C MANE Select	NP_000700.1:p.Ala220=
NM_001164783.2:c.660G>C	NP_001158255.1:p.Ala220=