Canonical Allele Identifier: CA406005979

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1599953367
• gnomAD v4: 19-41410995-G-A
• MyVariant Identifiers: chr19:g.41916900G>A (hg19) ; chr19:g.41410995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410995G>A , CM000681.2:g.41410995G>A	GRCh38
NC_000019.9:g.41916900G>A , CM000681.1:g.41916900G>A	GRCh37
NC_000019.8:g.46608740G>A	NCBI36
NG_013004.1:g.18207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.361G>A MANE Select	ENSP00000269980.2:p.Glu121Lys
ENST00000269980.6:c.361G>A	ENSP00000269980.2:p.Glu121Lys
ENST00000457836.6:c.295G>A	ENSP00000416000.2:p.Glu99Lys
ENST00000538423.5:n.487G>A
ENST00000540732.3:c.463G>A	ENSP00000443246.1:p.Glu155Lys
ENST00000541315.1:c.168G>A
ENST00000542943.5:c.288+179G>A	ENSP00000440345.1:n.288+179G>A
ENST00000595085.5:c.361G>A	ENSP00000471150.2:p.Glu121Lys
NM_000709.3:c.361G>A	NP_000700.1:p.Glu121Lys
NM_001164783.1:c.361G>A	NP_001158255.1:p.Glu121Lys
NM_000709.4:c.361G>A MANE Select	NP_000700.1:p.Glu121Lys
NM_001164783.2:c.361G>A	NP_001158255.1:p.Glu121Lys