Canonical Allele Identifier: CA507555706

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1079767
• ClinVar RCV Id: RCV001395160
• dbSNP Id: rs2123254617
• MyVariant Identifiers: chr19:g.41916887C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410982C>T , CM000681.2:g.41410982C>T	GRCh38
NC_000019.9:g.41916887C>T , CM000681.1:g.41916887C>T	GRCh37
NC_000019.8:g.46608727C>T	NCBI36
NG_013004.1:g.18194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.348C>T MANE Select	ENSP00000269980.2:p.Asp116=
ENST00000269980.6:c.348C>T	ENSP00000269980.2:p.Asp116=
ENST00000457836.6:c.282C>T	ENSP00000416000.2:p.Asp94=
ENST00000538423.5:n.474C>T
ENST00000540732.3:c.450C>T	ENSP00000443246.1:p.Asp150=
ENST00000541315.1:c.155C>T
ENST00000542943.5:c.288+166C>T	ENSP00000440345.1:n.288+166C>T
ENST00000595085.5:c.348C>T	ENSP00000471150.2:p.Asp116=
NM_000709.3:c.348C>T	NP_000700.1:p.Asp116=
NM_001164783.1:c.348C>T	NP_001158255.1:p.Asp116=
NM_000709.4:c.348C>T MANE Select	NP_000700.1:p.Asp116=
NM_001164783.2:c.348C>T	NP_001158255.1:p.Asp116=