Canonical Allele Identifier: CA633470401
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1100432
ClinVar RCV Id: RCV001423057
dbSNP Id: rs74586298
gnomAD v2: 19-41928897-G-C
gnomAD v3: 19-41422992-G-C
gnomAD v4: 19-41422992-G-C
MyVariant Identifiers: chr19:g.41928897G>C (hg19) chr19:g.41422992G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422992G>C , CM000681.2:g.41422992G>C GRCh38
NC_000019.9:g.41928897G>C , CM000681.1:g.41928897G>C GRCh37
NC_000019.8:g.46620737G>C NCBI36
NG_013004.1:g.30204G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-6G>C MANE Select ENSP00000269980.2:n.996-6G>C
ENST00000269980.6:c.996-6G>C ENSP00000269980.2:n.996-6G>C
ENST00000457836.6:c.999G>C ENSP00000416000.2:p.Leu333=
ENST00000540732.3:c.1098-6G>C ENSP00000443246.1:n.1098-6G>C
ENST00000542943.5:c.909-6G>C ENSP00000440345.1:n.909-6G>C
ENST00000595085.5:c.922+295G>C ENSP00000471150.2:n.922+295G>C
NM_000709.3:c.996-6G>C NP_000700.1:n.996-6G>C
NM_001164783.1:c.993-6G>C NP_001158255.1:n.993-6G>C
NM_000709.4:c.996-6G>C MANE Select NP_000700.1:n.996-6G>C
NM_001164783.2:c.993-6G>C NP_001158255.1:n.993-6G>C
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