Canonical Allele Identifier: CA406013546

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422768C>A , CM000681.2:g.41422768C>A	GRCh38
NC_000019.9:g.41928673C>A , CM000681.1:g.41928673C>A	GRCh37
NC_000019.8:g.46620513C>A	NCBI36
NG_013004.1:g.29980C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.993C>A MANE Select	NP_000700.1:p.Tyr331Ter
ENST00000269980.7:c.993C>A MANE Select	ENSP00000269980.2:p.Tyr331Ter
NM_000709.3:c.993C>A	NP_000700.1:p.Tyr331Ter
NM_001164783.1:c.990C>A	NP_001158255.1:p.Tyr330Ter
NM_001164783.2:c.990C>A	NP_001158255.1:p.Tyr330Ter
ENST00000269980.6:c.993C>A	ENSP00000269980.2:p.Tyr331Ter
ENST00000457836.6:c.927C>A	ENSP00000416000.2:p.Tyr309Ter
ENST00000540732.3:c.1095C>A	ENSP00000443246.1:p.Tyr365Ter
ENST00000542943.5:c.906C>A	ENSP00000440345.1:p.Tyr302Ter
ENST00000595085.5:c.922+71C>A	ENSP00000471150.2:n.922+71C>A