Canonical Allele Identifier: CA406015279

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930374A>C (hg19) ; chr19:g.41424469A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424469A>C , CM000681.2:g.41424469A>C	GRCh38
NC_000019.9:g.41930374A>C , CM000681.1:g.41930374A>C	GRCh37
NC_000019.8:g.46622214A>C	NCBI36
NG_013004.1:g.31681A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1199A>C MANE Select	ENSP00000269980.2:p.Lys400Thr
ENST00000269980.6:c.1199A>C	ENSP00000269980.2:p.Lys400Thr
ENST00000457836.6:c.1208A>C	ENSP00000416000.2:p.Lys403Thr
ENST00000540732.3:c.1301A>C	ENSP00000443246.1:p.Lys434Thr
ENST00000544905.1:c.62-33A>C
ENST00000595085.5:c.922+1772A>C	ENSP00000471150.2:n.922+1772A>C
NM_000709.3:c.1199A>C	NP_000700.1:p.Lys400Thr
NM_001164783.1:c.1196A>C	NP_001158255.1:p.Lys399Thr
NM_000709.4:c.1199A>C MANE Select	NP_000700.1:p.Lys400Thr
NM_001164783.2:c.1196A>C	NP_001158255.1:p.Lys399Thr