Canonical Allele Identifier: CA9461433
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2534031
ClinVar RCV Id: RCV003276065
dbSNP Id: rs539261230
ExAC: 19:41930505 G / A
gnomAD v2: 19-41930505-G-A
gnomAD v3: 19-41424600-G-A
gnomAD v4: 19-41424600-G-A
MyVariant Identifiers: chr19:g.41930505G>A (hg19) chr19:g.41424600G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424600G>A , CM000681.2:g.41424600G>A GRCh38
NC_000019.9:g.41930505G>A , CM000681.1:g.41930505G>A GRCh37
NC_000019.8:g.46622345G>A NCBI36
NG_013004.1:g.31812G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1330G>A MANE Select ENSP00000269980.2:p.Asp444Asn
ENST00000269980.6:c.1330G>A ENSP00000269980.2:p.Asp444Asn
ENST00000457836.6:c.1339G>A ENSP00000416000.2:p.Asp447Asn
ENST00000540732.3:c.1432G>A ENSP00000443246.1:p.Asp478Asn
ENST00000544905.1:c.160G>A
ENST00000595085.5:c.922+1903G>A ENSP00000471150.2:n.922+1903G>A
NM_000709.3:c.1330G>A NP_000700.1:p.Asp444Asn
NM_001164783.1:c.1327G>A NP_001158255.1:p.Asp443Asn
NM_000709.4:c.1330G>A MANE Select NP_000700.1:p.Asp444Asn
NM_001164783.2:c.1327G>A NP_001158255.1:p.Asp443Asn
Search 100 bp 5'
Search 100 bp 3'