Canonical Allele Identifier: CA146869
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93343
ClinVar RCV Id: RCV000079224 RCV000394945 RCV001668187 RCV001826713
dbSNP Id: rs4674
ExAC: 19:41930396 A / G
gnomAD v2: 19-41930396-A-G
gnomAD v3: 19-41424491-A-G
gnomAD v4: 19-41424491-A-G
MyVariant Identifiers: chr19:g.41930396A>G (hg19) chr19:g.41424491A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424491A>G , CM000681.2:g.41424491A>G GRCh38
NC_000019.9:g.41930396A>G , CM000681.1:g.41930396A>G GRCh37
NC_000019.8:g.46622236A>G NCBI36
NG_013004.1:g.31703A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1221A>G MANE Select ENSP00000269980.2:p.Leu407=
ENST00000269980.6:c.1221A>G ENSP00000269980.2:p.Leu407=
ENST00000457836.6:c.1230A>G ENSP00000416000.2:p.Leu410=
ENST00000540732.3:c.1323A>G ENSP00000443246.1:p.Leu441=
ENST00000544905.1:c.62-11A>G
ENST00000595085.5:c.922+1794A>G ENSP00000471150.2:n.922+1794A>G
NM_000709.3:c.1221A>G NP_000700.1:p.Leu407=
NM_001164783.1:c.1218A>G NP_001158255.1:p.Leu406=
NM_000709.4:c.1221A>G MANE Select NP_000700.1:p.Leu407=
NM_001164783.2:c.1218A>G NP_001158255.1:p.Leu406=
Search 100 bp 5'
Search 100 bp 3'