Canonical Allele Identifier: CA406012901

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422281-C-T
• MyVariant Identifiers: chr19:g.41928186C>T (hg19) ; chr19:g.41422281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422281C>T , CM000681.2:g.41422281C>T	GRCh38
NC_000019.9:g.41928186C>T , CM000681.1:g.41928186C>T	GRCh37
NC_000019.8:g.46620026C>T	NCBI36
NG_013004.1:g.29493C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.764C>T MANE Select	ENSP00000269980.2:p.Thr255Ile
ENST00000269980.6:c.764C>T	ENSP00000269980.2:p.Thr255Ile
ENST00000457836.6:c.698C>T	ENSP00000416000.2:p.Thr233Ile
ENST00000535632.5:n.393C>T
ENST00000540732.3:c.866C>T	ENSP00000443246.1:p.Thr289Ile
ENST00000542943.5:c.677C>T	ENSP00000440345.1:p.Thr226Ile
ENST00000545787.1:n.392C>T
ENST00000595085.5:c.764C>T	ENSP00000471150.2:p.Thr255Ile
NM_000709.3:c.764C>T	NP_000700.1:p.Thr255Ile
NM_001164783.1:c.764C>T	NP_001158255.1:p.Thr255Ile
NM_000709.4:c.764C>T MANE Select	NP_000700.1:p.Thr255Ile
NM_001164783.2:c.764C>T	NP_001158255.1:p.Thr255Ile