Canonical Allele Identifier: CA406012720

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928102A>C (hg19) ; chr19:g.41422197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422197A>C , CM000681.2:g.41422197A>C	GRCh38
NC_000019.9:g.41928102A>C , CM000681.1:g.41928102A>C	GRCh37
NC_000019.8:g.46619942A>C	NCBI36
NG_013004.1:g.29409A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.680A>C MANE Select	ENSP00000269980.2:p.Asn227Thr
ENST00000269980.6:c.680A>C	ENSP00000269980.2:p.Asn227Thr
ENST00000457836.6:c.614A>C	ENSP00000416000.2:p.Asn205Thr
ENST00000535632.5:n.309A>C
ENST00000538423.5:n.806A>C
ENST00000540732.3:c.782A>C	ENSP00000443246.1:p.Asn261Thr
ENST00000541315.1:c.580A>C
ENST00000542943.5:c.593A>C	ENSP00000440345.1:p.Asn198Thr
ENST00000545787.1:n.308A>C
ENST00000595085.5:c.680A>C	ENSP00000471150.2:p.Asn227Thr
NM_000709.3:c.680A>C	NP_000700.1:p.Asn227Thr
NM_001164783.1:c.680A>C	NP_001158255.1:p.Asn227Thr
NM_000709.4:c.680A>C MANE Select	NP_000700.1:p.Asn227Thr
NM_001164783.2:c.680A>C	NP_001158255.1:p.Asn227Thr