Canonical Allele Identifier: CA9461356

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 729964
• ClinVar RCV Id: RCV000904691
• dbSNP Id: rs548045051
• ExAC: 19:41928927 C / T
• gnomAD v2: 19-41928927-C-T
• gnomAD v3: 19-41423022-C-T
• gnomAD v4: 19-41423022-C-T
• COSMIC: COSM997032
• MyVariant Identifiers: chr19:g.41928927C>T (hg19) ; chr19:g.41423022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423022C>T , CM000681.2:g.41423022C>T	GRCh38
NC_000019.9:g.41928927C>T , CM000681.1:g.41928927C>T	GRCh37
NC_000019.8:g.46620767C>T	NCBI36
NG_013004.1:g.30234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1020C>T MANE Select	ENSP00000269980.2:p.Asp340=
ENST00000269980.6:c.1020C>T	ENSP00000269980.2:p.Asp340=
ENST00000457836.6:c.1029C>T	ENSP00000416000.2:p.Asp343=
ENST00000540732.3:c.1122C>T	ENSP00000443246.1:p.Asp374=
ENST00000542943.5:c.933C>T	ENSP00000440345.1:p.Asp311=
ENST00000595085.5:c.922+325C>T	ENSP00000471150.2:n.922+325C>T
NM_000709.3:c.1020C>T	NP_000700.1:p.Asp340=
NM_001164783.1:c.1017C>T	NP_001158255.1:p.Asp339=
NM_000709.4:c.1020C>T MANE Select	NP_000700.1:p.Asp340=
NM_001164783.2:c.1017C>T	NP_001158255.1:p.Asp339=