Canonical Allele Identifier: CA507560721

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424561-C-T
• MyVariant Identifiers: chr19:g.41930466C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424561C>T , CM000681.2:g.41424561C>T	GRCh38
NC_000019.9:g.41930466C>T , CM000681.1:g.41930466C>T	GRCh37
NC_000019.8:g.46622306C>T	NCBI36
NG_013004.1:g.31773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1291C>T MANE Select	ENSP00000269980.2:p.Leu431=
ENST00000269980.6:c.1291C>T	ENSP00000269980.2:p.Leu431=
ENST00000457836.6:c.1300C>T	ENSP00000416000.2:p.Leu434=
ENST00000540732.3:c.1393C>T	ENSP00000443246.1:p.Leu465=
ENST00000544905.1:c.121C>T
ENST00000595085.5:c.922+1864C>T	ENSP00000471150.2:n.922+1864C>T
NM_000709.3:c.1291C>T	NP_000700.1:p.Leu431=
NM_001164783.1:c.1288C>T	NP_001158255.1:p.Leu430=
NM_000709.4:c.1291C>T MANE Select	NP_000700.1:p.Leu431=
NM_001164783.2:c.1288C>T	NP_001158255.1:p.Leu430=