Canonical Allele Identifier: CA406013584
Gene: BCKDHA HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41928835C>G (hg19) chr19:g.41422930C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422930C>G , CM000681.2:g.41422930C>G GRCh38
NC_000019.9:g.41928835C>G , CM000681.1:g.41928835C>G GRCh37
NC_000019.8:g.46620675C>G NCBI36
NG_013004.1:g.30142C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-68C>G MANE Select ENSP00000269980.2:n.996-68C>G
ENST00000269980.6:c.996-68C>G ENSP00000269980.2:n.996-68C>G
ENST00000457836.6:c.937C>G ENSP00000416000.2:p.Pro313Ala
ENST00000540732.3:c.1098-68C>G ENSP00000443246.1:n.1098-68C>G
ENST00000542943.5:c.909-68C>G ENSP00000440345.1:n.909-68C>G
ENST00000595085.5:c.922+233C>G ENSP00000471150.2:n.922+233C>G
NM_000709.3:c.996-68C>G NP_000700.1:n.996-68C>G
NM_001164783.1:c.993-68C>G NP_001158255.1:n.993-68C>G
NM_000709.4:c.996-68C>G MANE Select NP_000700.1:n.996-68C>G
NM_001164783.2:c.993-68C>G NP_001158255.1:n.993-68C>G
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