Canonical Allele Identifier: CA9461042

Gene: BCKDHA

Linked Data

• dbSNP Id: rs778250707
• ExAC: 19:41916718 C / A
• gnomAD v2: 19-41916718-C-A
• gnomAD v4: 19-41410813-C-A
• MyVariant Identifiers: chr19:g.41916718C>A (hg19) ; chr19:g.41410813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410813C>A , CM000681.2:g.41410813C>A	GRCh38
NC_000019.9:g.41916718C>A , CM000681.1:g.41916718C>A	GRCh37
NC_000019.8:g.46608558C>A	NCBI36
NG_013004.1:g.18025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.285C>A MANE Select	ENSP00000269980.2:p.Pro95=
ENST00000269980.6:c.285C>A	ENSP00000269980.2:p.Pro95=
ENST00000457836.6:c.219C>A	ENSP00000416000.2:p.Pro73=
ENST00000538423.5:n.305C>A
ENST00000540732.3:c.387C>A	ENSP00000443246.1:p.Pro129=
ENST00000541315.1:c.92C>A
ENST00000542943.5:c.285C>A	ENSP00000440345.1:p.Pro95=
ENST00000595085.5:c.285C>A	ENSP00000471150.2:p.Pro95=
ENST00000604424.1:n.527C>A
NM_000709.3:c.285C>A	NP_000700.1:p.Pro95=
NM_001164783.1:c.285C>A	NP_001158255.1:p.Pro95=
NM_000709.4:c.285C>A MANE Select	NP_000700.1:p.Pro95=
NM_001164783.2:c.285C>A	NP_001158255.1:p.Pro95=