Canonical Allele Identifier: CA507690430

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1367109275
• gnomAD v4: 19-41422216-C-T
• MyVariant Identifiers: chr19:g.41928121C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422216C>T , CM000681.2:g.41422216C>T	GRCh38
NC_000019.9:g.41928121C>T , CM000681.1:g.41928121C>T	GRCh37
NC_000019.8:g.46619961C>T	NCBI36
NG_013004.1:g.29428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.699C>T MANE Select	ENSP00000269980.2:p.Ile233=
ENST00000269980.6:c.699C>T	ENSP00000269980.2:p.Ile233=
ENST00000457836.6:c.633C>T	ENSP00000416000.2:p.Ile211=
ENST00000535632.5:n.328C>T
ENST00000540732.3:c.801C>T	ENSP00000443246.1:p.Ile267=
ENST00000541315.1:c.599C>T
ENST00000542943.5:c.612C>T	ENSP00000440345.1:p.Ile204=
ENST00000545787.1:n.327C>T
ENST00000595085.5:c.699C>T	ENSP00000471150.2:p.Ile233=
NM_000709.3:c.699C>T	NP_000700.1:p.Ile233=
NM_001164783.1:c.699C>T	NP_001158255.1:p.Ile233=
NM_000709.4:c.699C>T MANE Select	NP_000700.1:p.Ile233=
NM_001164783.2:c.699C>T	NP_001158255.1:p.Ile233=