Canonical Allele Identifier: CA221194

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93353
• ClinVar RCV Id: RCV000270845 ; RCV000723410 ; RCV001273301 ; RCV002514393 ; RCV003964923
• dbSNP Id: rs148571328
• ExAC: 19:41916721 C / T
• gnomAD v2: 19-41916721-C-T
• gnomAD v3: 19-41410816-C-T
• gnomAD v4: 19-41410816-C-T
• MyVariant Identifiers: chr19:g.41916721C>T (hg19) ; chr19:g.41410816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410816C>T , CM000681.2:g.41410816C>T	GRCh38
NC_000019.9:g.41916721C>T , CM000681.1:g.41916721C>T	GRCh37
NC_000019.8:g.46608561C>T	NCBI36
NG_013004.1:g.18028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.288C>T MANE Select	ENSP00000269980.2:p.His96=
ENST00000269980.6:c.288C>T	ENSP00000269980.2:p.His96=
ENST00000457836.6:c.222C>T	ENSP00000416000.2:p.His74=
ENST00000538423.5:n.308C>T
ENST00000540732.3:c.390C>T	ENSP00000443246.1:p.His130=
ENST00000541315.1:c.95C>T
ENST00000542943.5:c.288C>T	ENSP00000440345.1:p.His96=
ENST00000595085.5:c.288C>T	ENSP00000471150.2:p.His96=
ENST00000604424.1:n.530C>T
NM_000709.3:c.288C>T	NP_000700.1:p.His96=
NM_001164783.1:c.288C>T	NP_001158255.1:p.His96=
NM_000709.4:c.288C>T MANE Select	NP_000700.1:p.His96=
NM_001164783.2:c.288C>T	NP_001158255.1:p.His96=