Canonical Allele Identifier: CA507560708

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930453T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424548T>C , CM000681.2:g.41424548T>C	GRCh38
NC_000019.9:g.41930453T>C , CM000681.1:g.41930453T>C	GRCh37
NC_000019.8:g.46622293T>C	NCBI36
NG_013004.1:g.31760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1278T>C MANE Select	ENSP00000269980.2:p.Ser426=
ENST00000269980.6:c.1278T>C	ENSP00000269980.2:p.Ser426=
ENST00000457836.6:c.1287T>C	ENSP00000416000.2:p.Ser429=
ENST00000540732.3:c.1380T>C	ENSP00000443246.1:p.Ser460=
ENST00000544905.1:c.108T>C
ENST00000595085.5:c.922+1851T>C	ENSP00000471150.2:n.922+1851T>C
NM_000709.3:c.1278T>C	NP_000700.1:p.Ser426=
NM_001164783.1:c.1275T>C	NP_001158255.1:p.Ser425=
NM_000709.4:c.1278T>C MANE Select	NP_000700.1:p.Ser426=
NM_001164783.2:c.1275T>C	NP_001158255.1:p.Ser425=