Canonical Allele Identifier: CA507690781

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928921C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423016C>G , CM000681.2:g.41423016C>G	GRCh38
NC_000019.9:g.41928921C>G , CM000681.1:g.41928921C>G	GRCh37
NC_000019.8:g.46620761C>G	NCBI36
NG_013004.1:g.30228C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1014C>G MANE Select	ENSP00000269980.2:p.Thr338=
ENST00000269980.6:c.1014C>G	ENSP00000269980.2:p.Thr338=
ENST00000457836.6:c.1023C>G	ENSP00000416000.2:p.Thr341=
ENST00000540732.3:c.1116C>G	ENSP00000443246.1:p.Thr372=
ENST00000542943.5:c.927C>G	ENSP00000440345.1:p.Thr309=
ENST00000595085.5:c.922+319C>G	ENSP00000471150.2:n.922+319C>G
NM_000709.3:c.1014C>G	NP_000700.1:p.Thr338=
NM_001164783.1:c.1011C>G	NP_001158255.1:p.Thr337=
NM_000709.4:c.1014C>G MANE Select	NP_000700.1:p.Thr338=
NM_001164783.2:c.1011C>G	NP_001158255.1:p.Thr337=