Canonical Allele Identifier: CA406012749

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928117T>G (hg19) ; chr19:g.41422212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422212T>G , CM000681.2:g.41422212T>G	GRCh38
NC_000019.9:g.41928117T>G , CM000681.1:g.41928117T>G	GRCh37
NC_000019.8:g.46619957T>G	NCBI36
NG_013004.1:g.29424T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.695T>G MANE Select	ENSP00000269980.2:p.Val232Gly
ENST00000269980.6:c.695T>G	ENSP00000269980.2:p.Val232Gly
ENST00000457836.6:c.629T>G	ENSP00000416000.2:p.Val210Gly
ENST00000535632.5:n.324T>G
ENST00000540732.3:c.797T>G	ENSP00000443246.1:p.Val266Gly
ENST00000541315.1:c.595T>G
ENST00000542943.5:c.608T>G	ENSP00000440345.1:p.Val203Gly
ENST00000545787.1:n.323T>G
ENST00000595085.5:c.695T>G	ENSP00000471150.2:p.Val232Gly
NM_000709.3:c.695T>G	NP_000700.1:p.Val232Gly
NM_001164783.1:c.695T>G	NP_001158255.1:p.Val232Gly
NM_000709.4:c.695T>G MANE Select	NP_000700.1:p.Val232Gly
NM_001164783.2:c.695T>G	NP_001158255.1:p.Val232Gly