Canonical Allele Identifier: CA406005012

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916704C>G (hg19) ; chr19:g.41410799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410799C>G , CM000681.2:g.41410799C>G	GRCh38
NC_000019.9:g.41916704C>G , CM000681.1:g.41916704C>G	GRCh37
NC_000019.8:g.46608544C>G	NCBI36
NG_013004.1:g.18011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.271C>G MANE Select	ENSP00000269980.2:p.Pro91Ala
ENST00000269980.6:c.271C>G	ENSP00000269980.2:p.Pro91Ala
ENST00000457836.6:c.205C>G	ENSP00000416000.2:p.Pro69Ala
ENST00000538423.5:n.291C>G
ENST00000540732.3:c.373C>G	ENSP00000443246.1:p.Pro125Ala
ENST00000541315.1:c.78C>G
ENST00000542943.5:c.271C>G	ENSP00000440345.1:p.Pro91Ala
ENST00000595085.5:c.271C>G	ENSP00000471150.2:p.Pro91Ala
ENST00000604424.1:n.513C>G
NM_000709.3:c.271C>G	NP_000700.1:p.Pro91Ala
NM_001164783.1:c.271C>G	NP_001158255.1:p.Pro91Ala
NM_000709.4:c.271C>G MANE Select	NP_000700.1:p.Pro91Ala
NM_001164783.2:c.271C>G	NP_001158255.1:p.Pro91Ala