Canonical Allele Identifier: CA406005119

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41410816-C-G
• MyVariant Identifiers: chr19:g.41916721C>G (hg19) ; chr19:g.41410816C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.288C>G MANE Select	ENSP00000269980.2:p.His96Gln
ENST00000269980.6:c.288C>G	ENSP00000269980.2:p.His96Gln
ENST00000457836.6:c.222C>G	ENSP00000416000.2:p.His74Gln
ENST00000538423.5:n.308C>G
ENST00000540732.3:c.390C>G	ENSP00000443246.1:p.His130Gln
ENST00000541315.1:c.95C>G
ENST00000542943.5:c.288C>G	ENSP00000440345.1:p.His96Gln
ENST00000595085.5:c.288C>G	ENSP00000471150.2:p.His96Gln
ENST00000604424.1:n.530C>G
NM_000709.3:c.288C>G	NP_000700.1:p.His96Gln
NM_001164783.1:c.288C>G	NP_001158255.1:p.His96Gln
NM_000709.4:c.288C>G MANE Select	NP_000700.1:p.His96Gln
NM_001164783.2:c.288C>G	NP_001158255.1:p.His96Gln