Canonical Allele Identifier: CA507560709

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930454C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424549C>T , CM000681.2:g.41424549C>T	GRCh38
NC_000019.9:g.41930454C>T , CM000681.1:g.41930454C>T	GRCh37
NC_000019.8:g.46622294C>T	NCBI36
NG_013004.1:g.31761C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1279C>T MANE Select	ENSP00000269980.2:p.Leu427=
ENST00000269980.6:c.1279C>T	ENSP00000269980.2:p.Leu427=
ENST00000457836.6:c.1288C>T	ENSP00000416000.2:p.Leu430=
ENST00000540732.3:c.1381C>T	ENSP00000443246.1:p.Leu461=
ENST00000544905.1:c.109C>T
ENST00000595085.5:c.922+1852C>T	ENSP00000471150.2:n.922+1852C>T
NM_000709.3:c.1279C>T	NP_000700.1:p.Leu427=
NM_001164783.1:c.1276C>T	NP_001158255.1:p.Leu426=
NM_000709.4:c.1279C>T MANE Select	NP_000700.1:p.Leu427=
NM_001164783.2:c.1276C>T	NP_001158255.1:p.Leu426=