Canonical Allele Identifier: CA9461394
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs768759410
ExAC: 19:41930343 G / A
gnomAD v2: 19-41930343-G-A
gnomAD v3: 19-41424438-G-A
gnomAD v4: 19-41424438-G-A
COSMIC: COSM5458745
MyVariant Identifiers: chr19:g.41930343G>A (hg19) chr19:g.41424438G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424438G>A , CM000681.2:g.41424438G>A GRCh38
NC_000019.9:g.41930343G>A , CM000681.1:g.41930343G>A GRCh37
NC_000019.8:g.46622183G>A NCBI36
NG_013004.1:g.31650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1168G>A MANE Select ENSP00000269980.2:p.Val390Met
ENST00000269980.6:c.1168G>A ENSP00000269980.2:p.Val390Met
ENST00000457836.6:c.1177G>A ENSP00000416000.2:p.Val393Met
ENST00000540732.3:c.1270G>A ENSP00000443246.1:p.Val424Met
ENST00000544905.1:c.62-64G>A
ENST00000595085.5:c.922+1741G>A ENSP00000471150.2:n.922+1741G>A
NM_000709.3:c.1168G>A NP_000700.1:p.Val390Met
NM_001164783.1:c.1165G>A NP_001158255.1:p.Val389Met
NM_000709.4:c.1168G>A MANE Select NP_000700.1:p.Val390Met
NM_001164783.2:c.1165G>A NP_001158255.1:p.Val389Met
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