Canonical Allele Identifier: CA221179

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93339
• ClinVar RCV Id: RCV000079220
• dbSNP Id: rs398123487
• gnomAD v4: 19-41424407-C-T
• MyVariant Identifiers: chr19:g.41930312C>T (hg19) ; chr19:g.41424407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424407C>T , CM000681.2:g.41424407C>T	GRCh38
NC_000019.9:g.41930312C>T , CM000681.1:g.41930312C>T	GRCh37
NC_000019.8:g.46622152C>T	NCBI36
NG_013004.1:g.31619C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1168-31C>T MANE Select	ENSP00000269980.2:n.1168-31C>T
ENST00000269980.6:c.1168-31C>T	ENSP00000269980.2:n.1168-31C>T
ENST00000457836.6:c.1177-31C>T	ENSP00000416000.2:n.1177-31C>T
ENST00000540732.3:c.1270-31C>T	ENSP00000443246.1:n.1270-31C>T
ENST00000544905.1:c.62-95C>T
ENST00000595085.5:c.922+1710C>T	ENSP00000471150.2:n.922+1710C>T
NM_000709.3:c.1168-31C>T	NP_000700.1:n.1168-31C>T
NM_001164783.1:c.1165-31C>T	NP_001158255.1:n.1165-31C>T
NM_000709.4:c.1168-31C>T MANE Select	NP_000700.1:n.1168-31C>T
NM_001164783.2:c.1165-31C>T	NP_001158255.1:n.1165-31C>T