Canonical Allele Identifier: CA9461010

Gene: BCKDHA

Linked Data

• dbSNP Id: rs745633347
• ExAC: 19:41916578 G / T
• gnomAD v2: 19-41916578-G-T
• gnomAD v4: 19-41410673-G-T
• MyVariant Identifiers: chr19:g.41916578G>T (hg19) ; chr19:g.41410673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410673G>T , CM000681.2:g.41410673G>T	GRCh38
NC_000019.9:g.41916578G>T , CM000681.1:g.41916578G>T	GRCh37
NC_000019.8:g.46608418G>T	NCBI36
NG_013004.1:g.17885G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.145G>T MANE Select	ENSP00000269980.2:p.Asp49Tyr
ENST00000269980.6:c.145G>T	ENSP00000269980.2:p.Asp49Tyr
ENST00000457836.6:c.79G>T	ENSP00000416000.2:p.Asp27Tyr
ENST00000538423.5:n.165G>T
ENST00000540732.3:c.247G>T	ENSP00000443246.1:p.Asp83Tyr
ENST00000542943.5:c.145G>T	ENSP00000440345.1:p.Asp49Tyr
ENST00000595085.5:c.145G>T	ENSP00000471150.2:p.Asp49Tyr
ENST00000604424.1:n.387G>T
NM_000709.3:c.145G>T	NP_000700.1:p.Asp49Tyr
NM_001164783.1:c.145G>T	NP_001158255.1:p.Asp49Tyr
NM_000709.4:c.145G>T MANE Select	NP_000700.1:p.Asp49Tyr
NM_001164783.2:c.145G>T	NP_001158255.1:p.Asp49Tyr