Canonical Allele Identifier: CA2336459992
Gene: BCKDHA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424396T= , CM000681.2:g.41424396T= GRCh38
NC_000019.9:g.41930301T= , CM000681.1:g.41930301T= GRCh37
NC_000019.8:g.46622141T= NCBI36
NG_013004.1:g.31608T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1168-42T= MANE Select ENSP00000269980.2:n.1168-42T=
ENST00000269980.6:c.1168-42T= ENSP00000269980.2:n.1168-42T=
ENST00000457836.6:c.1177-42T= ENSP00000416000.2:n.1177-42T=
ENST00000540732.3:c.1270-42T= ENSP00000443246.1:n.1270-42T=
ENST00000544905.1:c.62-106T=
ENST00000595085.5:c.922+1699T= ENSP00000471150.2:n.922+1699T=
NM_000709.3:c.1168-42T= NP_000700.1:n.1168-42T=
NM_001164783.1:c.1165-42T= NP_001158255.1:n.1165-42T=
NM_000709.4:c.1168-42T= MANE Select NP_000700.1:n.1168-42T=
NM_001164783.2:c.1165-42T= NP_001158255.1:n.1165-42T=
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