Canonical Allele Identifier: CA406015742

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1275326898
• gnomAD v2: 19-41930494-T-C
• gnomAD v4: 19-41424589-T-C
• MyVariant Identifiers: chr19:g.41930494T>C (hg19) ; chr19:g.41424589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424589T>C , CM000681.2:g.41424589T>C	GRCh38
NC_000019.9:g.41930494T>C , CM000681.1:g.41930494T>C	GRCh37
NC_000019.8:g.46622334T>C	NCBI36
NG_013004.1:g.31801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1319T>C MANE Select	ENSP00000269980.2:p.Leu440Pro
ENST00000269980.6:c.1319T>C	ENSP00000269980.2:p.Leu440Pro
ENST00000457836.6:c.1328T>C	ENSP00000416000.2:p.Leu443Pro
ENST00000540732.3:c.1421T>C	ENSP00000443246.1:p.Leu474Pro
ENST00000544905.1:c.149T>C
ENST00000595085.5:c.922+1892T>C	ENSP00000471150.2:n.922+1892T>C
NM_000709.3:c.1319T>C	NP_000700.1:p.Leu440Pro
NM_001164783.1:c.1316T>C	NP_001158255.1:p.Leu439Pro
NM_000709.4:c.1319T>C MANE Select	NP_000700.1:p.Leu440Pro
NM_001164783.2:c.1316T>C	NP_001158255.1:p.Leu439Pro