Canonical Allele Identifier: CA9461360
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 382992
ClinVar RCV Id: RCV000443158 RCV002062560
dbSNP Id: rs376446100
ExAC: 19:41928939 G / A
gnomAD v2: 19-41928939-G-A
gnomAD v3: 19-41423034-G-A
gnomAD v4: 19-41423034-G-A
MyVariant Identifiers: chr19:g.41928939G>A (hg19) chr19:g.41423034G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423034G>A , CM000681.2:g.41423034G>A GRCh38
NC_000019.9:g.41928939G>A , CM000681.1:g.41928939G>A GRCh37
NC_000019.8:g.46620779G>A NCBI36
NG_013004.1:g.30246G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1032G>A MANE Select ENSP00000269980.2:p.Ala344=
ENST00000269980.6:c.1032G>A ENSP00000269980.2:p.Ala344=
ENST00000457836.6:c.1041G>A ENSP00000416000.2:p.Ala347=
ENST00000540732.3:c.1134G>A ENSP00000443246.1:p.Ala378=
ENST00000542943.5:c.945G>A ENSP00000440345.1:p.Ala315=
ENST00000595085.5:c.922+337G>A ENSP00000471150.2:n.922+337G>A
NM_000709.3:c.1032G>A NP_000700.1:p.Ala344=
NM_001164783.1:c.1029G>A NP_001158255.1:p.Ala343=
NM_000709.4:c.1032G>A MANE Select NP_000700.1:p.Ala344=
NM_001164783.2:c.1029G>A NP_001158255.1:p.Ala343=
Search 100 bp 5'
Search 100 bp 3'