Canonical Allele Identifier: CA406013742

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928906C>G (hg19) ; chr19:g.41423001C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423001C>G , CM000681.2:g.41423001C>G	GRCh38
NC_000019.9:g.41928906C>G , CM000681.1:g.41928906C>G	GRCh37
NC_000019.8:g.46620746C>G	NCBI36
NG_013004.1:g.30213C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.999C>G MANE Select	ENSP00000269980.2:p.Ile333Met
ENST00000269980.6:c.999C>G	ENSP00000269980.2:p.Ile333Met
ENST00000457836.6:c.1008C>G	ENSP00000416000.2:p.Ile336Met
ENST00000540732.3:c.1101C>G	ENSP00000443246.1:p.Ile367Met
ENST00000542943.5:c.912C>G	ENSP00000440345.1:p.Ile304Met
ENST00000595085.5:c.922+304C>G	ENSP00000471150.2:n.922+304C>G
NM_000709.3:c.999C>G	NP_000700.1:p.Ile333Met
NM_001164783.1:c.996C>G	NP_001158255.1:p.Ile332Met
NM_000709.4:c.999C>G MANE Select	NP_000700.1:p.Ile333Met
NM_001164783.2:c.996C>G	NP_001158255.1:p.Ile332Met