Canonical Allele Identifier: CA406006111

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916912C>T (hg19) ; chr19:g.41411007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411007C>T , CM000681.2:g.41411007C>T	GRCh38
NC_000019.9:g.41916912C>T , CM000681.1:g.41916912C>T	GRCh37
NC_000019.8:g.46608752C>T	NCBI36
NG_013004.1:g.18219C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.373C>T MANE Select	ENSP00000269980.2:p.Gln125Ter
ENST00000269980.6:c.373C>T	ENSP00000269980.2:p.Gln125Ter
ENST00000457836.6:c.307C>T	ENSP00000416000.2:p.Gln103Ter
ENST00000538423.5:n.499C>T
ENST00000540732.3:c.475C>T	ENSP00000443246.1:p.Gln159Ter
ENST00000541315.1:c.180C>T
ENST00000542943.5:c.288+191C>T	ENSP00000440345.1:n.288+191C>T
ENST00000595085.5:c.373C>T	ENSP00000471150.2:p.Gln125Ter
NM_000709.3:c.373C>T	NP_000700.1:p.Gln125Ter
NM_001164783.1:c.373C>T	NP_001158255.1:p.Gln125Ter
NM_000709.4:c.373C>T MANE Select	NP_000700.1:p.Gln125Ter
NM_001164783.2:c.373C>T	NP_001158255.1:p.Gln125Ter