Canonical Allele Identifier: CA507690423

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928118C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422213C>A , CM000681.2:g.41422213C>A	GRCh38
NC_000019.9:g.41928118C>A , CM000681.1:g.41928118C>A	GRCh37
NC_000019.8:g.46619958C>A	NCBI36
NG_013004.1:g.29425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.696C>A MANE Select	ENSP00000269980.2:p.Val232=
ENST00000269980.6:c.696C>A	ENSP00000269980.2:p.Val232=
ENST00000457836.6:c.630C>A	ENSP00000416000.2:p.Val210=
ENST00000535632.5:n.325C>A
ENST00000540732.3:c.798C>A	ENSP00000443246.1:p.Val266=
ENST00000541315.1:c.596C>A
ENST00000542943.5:c.609C>A	ENSP00000440345.1:p.Val203=
ENST00000545787.1:n.324C>A
ENST00000595085.5:c.696C>A	ENSP00000471150.2:p.Val232=
NM_000709.3:c.696C>A	NP_000700.1:p.Val232=
NM_001164783.1:c.696C>A	NP_001158255.1:p.Val232=
NM_000709.4:c.696C>A MANE Select	NP_000700.1:p.Val232=
NM_001164783.2:c.696C>A	NP_001158255.1:p.Val232=