Canonical Allele Identifier: CA9461145

Gene: BCKDHA

Linked Data

• dbSNP Id: rs778191834
• ExAC: 19:41920023 G / C
• gnomAD v2: 19-41920023-G-C
• gnomAD v3: 19-41414118-G-C
• gnomAD v4: 19-41414118-G-C
• MyVariant Identifiers: chr19:g.41920023G>C (hg19) ; chr19:g.41414118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414118G>C , CM000681.2:g.41414118G>C	GRCh38
NC_000019.9:g.41920023G>C , CM000681.1:g.41920023G>C	GRCh37
NC_000019.8:g.46611863G>C	NCBI36
NG_013004.1:g.21330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.445G>C MANE Select	ENSP00000269980.2:p.Asp149His
ENST00000269980.6:c.445G>C	ENSP00000269980.2:p.Asp149His
ENST00000457836.6:c.379G>C	ENSP00000416000.2:p.Asp127His
ENST00000538423.5:n.571G>C
ENST00000540732.3:c.547G>C	ENSP00000443246.1:p.Asp183His
ENST00000541315.1:c.252G>C
ENST00000542943.5:c.358G>C	ENSP00000440345.1:p.Asp120His
ENST00000595085.5:c.445G>C	ENSP00000471150.2:p.Asp149His
NM_000709.3:c.445G>C	NP_000700.1:p.Asp149His
NM_001164783.1:c.445G>C	NP_001158255.1:p.Asp149His
NM_000709.4:c.445G>C MANE Select	NP_000700.1:p.Asp149His
NM_001164783.2:c.445G>C	NP_001158255.1:p.Asp149His