Canonical Allele Identifier: CA406013827

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928942C>G (hg19) ; chr19:g.41423037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423037C>G , CM000681.2:g.41423037C>G	GRCh38
NC_000019.9:g.41928942C>G , CM000681.1:g.41928942C>G	GRCh37
NC_000019.8:g.46620782C>G	NCBI36
NG_013004.1:g.30249C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1035C>G MANE Select	ENSP00000269980.2:p.Tyr345Ter
ENST00000269980.6:c.1035C>G	ENSP00000269980.2:p.Tyr345Ter
ENST00000457836.6:c.1044C>G	ENSP00000416000.2:p.Tyr348Ter
ENST00000540732.3:c.1137C>G	ENSP00000443246.1:p.Tyr379Ter
ENST00000542943.5:c.948C>G	ENSP00000440345.1:p.Tyr316Ter
ENST00000595085.5:c.922+340C>G	ENSP00000471150.2:n.922+340C>G
NM_000709.3:c.1035C>G	NP_000700.1:p.Tyr345Ter
NM_001164783.1:c.1032C>G	NP_001158255.1:p.Tyr344Ter
NM_000709.4:c.1035C>G MANE Select	NP_000700.1:p.Tyr345Ter
NM_001164783.2:c.1032C>G	NP_001158255.1:p.Tyr344Ter