Canonical Allele Identifier: CA406015400
Gene: BCKDHA HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41930415C>A (hg19) chr19:g.41424510C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424510C>A , CM000681.2:g.41424510C>A GRCh38
NC_000019.9:g.41930415C>A , CM000681.1:g.41930415C>A GRCh37
NC_000019.8:g.46622255C>A NCBI36
NG_013004.1:g.31722C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.1240C>A MANE Select ENSP00000269980.2:p.Gln414Lys
ENST00000269980.6:c.1240C>A ENSP00000269980.2:p.Gln414Lys
ENST00000457836.6:c.1249C>A ENSP00000416000.2:p.Gln417Lys
ENST00000540732.3:c.1342C>A ENSP00000443246.1:p.Gln448Lys
ENST00000544905.1:c.70C>A
ENST00000595085.5:c.922+1813C>A ENSP00000471150.2:n.922+1813C>A
NM_000709.3:c.1240C>A NP_000700.1:p.Gln414Lys
NM_001164783.1:c.1237C>A NP_001158255.1:p.Gln413Lys
NM_000709.4:c.1240C>A MANE Select NP_000700.1:p.Gln414Lys
NM_001164783.2:c.1237C>A NP_001158255.1:p.Gln413Lys
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