Canonical Allele Identifier: CA507690789

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1653447
• ClinVar RCV Id: RCV002161127
• dbSNP Id: rs376446100
• gnomAD v4: 19-41423034-G-T
• MyVariant Identifiers: chr19:g.41928939G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423034G>T , CM000681.2:g.41423034G>T	GRCh38
NC_000019.9:g.41928939G>T , CM000681.1:g.41928939G>T	GRCh37
NC_000019.8:g.46620779G>T	NCBI36
NG_013004.1:g.30246G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1032G>T MANE Select	ENSP00000269980.2:p.Ala344=
ENST00000269980.6:c.1032G>T	ENSP00000269980.2:p.Ala344=
ENST00000457836.6:c.1041G>T	ENSP00000416000.2:p.Ala347=
ENST00000540732.3:c.1134G>T	ENSP00000443246.1:p.Ala378=
ENST00000542943.5:c.945G>T	ENSP00000440345.1:p.Ala315=
ENST00000595085.5:c.922+337G>T	ENSP00000471150.2:n.922+337G>T
NM_000709.3:c.1032G>T	NP_000700.1:p.Ala344=
NM_001164783.1:c.1029G>T	NP_001158255.1:p.Ala343=
NM_000709.4:c.1032G>T MANE Select	NP_000700.1:p.Ala344=
NM_001164783.2:c.1029G>T	NP_001158255.1:p.Ala343=