Canonical Allele Identifier: CA406015445

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1723318
• ClinVar RCV Id: RCV002308594
• dbSNP Id: rs1437382824
• gnomAD v2: 19-41930430-C-T
• gnomAD v4: 19-41424525-C-T
• MyVariant Identifiers: chr19:g.41930430C>T (hg19) ; chr19:g.41424525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424525C>T , CM000681.2:g.41424525C>T	GRCh38
NC_000019.9:g.41930430C>T , CM000681.1:g.41930430C>T	GRCh37
NC_000019.8:g.46622270C>T	NCBI36
NG_013004.1:g.31737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1255C>T MANE Select	ENSP00000269980.2:p.Gln419Ter
ENST00000269980.6:c.1255C>T	ENSP00000269980.2:p.Gln419Ter
ENST00000457836.6:c.1264C>T	ENSP00000416000.2:p.Gln422Ter
ENST00000540732.3:c.1357C>T	ENSP00000443246.1:p.Gln453Ter
ENST00000544905.1:c.85C>T
ENST00000595085.5:c.922+1828C>T	ENSP00000471150.2:n.922+1828C>T
NM_000709.3:c.1255C>T	NP_000700.1:p.Gln419Ter
NM_001164783.1:c.1252C>T	NP_001158255.1:p.Gln418Ter
NM_000709.4:c.1255C>T MANE Select	NP_000700.1:p.Gln419Ter
NM_001164783.2:c.1252C>T	NP_001158255.1:p.Gln418Ter