Canonical Allele Identifier: CA507690559

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2031870
• ClinVar RCV Id: RCV002867540
• dbSNP Id: rs1437359899
• gnomAD v2: 19-41928184-C-T
• gnomAD v3: 19-41422279-C-T
• gnomAD v4: 19-41422279-C-T
• MyVariant Identifiers: chr19:g.41928184C>T (hg19) ; chr19:g.41422279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422279C>T , CM000681.2:g.41422279C>T	GRCh38
NC_000019.9:g.41928184C>T , CM000681.1:g.41928184C>T	GRCh37
NC_000019.8:g.46620024C>T	NCBI36
NG_013004.1:g.29491C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.762C>T MANE Select	ENSP00000269980.2:p.Ala254=
ENST00000269980.6:c.762C>T	ENSP00000269980.2:p.Ala254=
ENST00000457836.6:c.696C>T	ENSP00000416000.2:p.Ala232=
ENST00000535632.5:n.391C>T
ENST00000540732.3:c.864C>T	ENSP00000443246.1:p.Ala288=
ENST00000542943.5:c.675C>T	ENSP00000440345.1:p.Ala225=
ENST00000545787.1:n.390C>T
ENST00000595085.5:c.762C>T	ENSP00000471150.2:p.Ala254=
NM_000709.3:c.762C>T	NP_000700.1:p.Ala254=
NM_001164783.1:c.762C>T	NP_001158255.1:p.Ala254=
NM_000709.4:c.762C>T MANE Select	NP_000700.1:p.Ala254=
NM_001164783.2:c.762C>T	NP_001158255.1:p.Ala254=