Canonical Allele Identifier: CA507560746

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2045281
• ClinVar RCV Id: RCV002918063
• gnomAD v4: 19-41424602-T-C
• MyVariant Identifiers: chr19:g.41930507T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424602T>C , CM000681.2:g.41424602T>C	GRCh38
NC_000019.9:g.41930507T>C , CM000681.1:g.41930507T>C	GRCh37
NC_000019.8:g.46622347T>C	NCBI36
NG_013004.1:g.31814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1332T>C MANE Select	ENSP00000269980.2:p.Asp444=
ENST00000269980.6:c.1332T>C	ENSP00000269980.2:p.Asp444=
ENST00000457836.6:c.1341T>C	ENSP00000416000.2:p.Asp447=
ENST00000540732.3:c.1434T>C	ENSP00000443246.1:p.Asp478=
ENST00000544905.1:c.162T>C
ENST00000595085.5:c.922+1905T>C	ENSP00000471150.2:n.922+1905T>C
NM_000709.3:c.1332T>C	NP_000700.1:p.Asp444=
NM_001164783.1:c.1329T>C	NP_001158255.1:p.Asp443=
NM_000709.4:c.1332T>C MANE Select	NP_000700.1:p.Asp444=
NM_001164783.2:c.1329T>C	NP_001158255.1:p.Asp443=