Canonical Allele Identifier: CA406013786

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928924T>G (hg19) ; chr19:g.41423019T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423019T>G , CM000681.2:g.41423019T>G	GRCh38
NC_000019.9:g.41928924T>G , CM000681.1:g.41928924T>G	GRCh37
NC_000019.8:g.46620764T>G	NCBI36
NG_013004.1:g.30231T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1017T>G MANE Select	ENSP00000269980.2:p.Ser339Arg
ENST00000269980.6:c.1017T>G	ENSP00000269980.2:p.Ser339Arg
ENST00000457836.6:c.1026T>G	ENSP00000416000.2:p.Ser342Arg
ENST00000540732.3:c.1119T>G	ENSP00000443246.1:p.Ser373Arg
ENST00000542943.5:c.930T>G	ENSP00000440345.1:p.Ser310Arg
ENST00000595085.5:c.922+322T>G	ENSP00000471150.2:n.922+322T>G
NM_000709.3:c.1017T>G	NP_000700.1:p.Ser339Arg
NM_001164783.1:c.1014T>G	NP_001158255.1:p.Ser338Arg
NM_000709.4:c.1017T>G MANE Select	NP_000700.1:p.Ser339Arg
NM_001164783.2:c.1014T>G	NP_001158255.1:p.Ser338Arg