Canonical Allele Identifier: CA2585308343

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424287-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424287T>G , CM000681.2:g.41424287T>G	GRCh38
NC_000019.9:g.41930192T>G , CM000681.1:g.41930192T>G	GRCh37
NC_000019.8:g.46622032T>G	NCBI36
NG_013004.1:g.31499T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1168-151T>G MANE Select	ENSP00000269980.2:n.1168-151T>G
ENST00000269980.6:c.1168-151T>G	ENSP00000269980.2:n.1168-151T>G
ENST00000457836.6:c.1177-151T>G	ENSP00000416000.2:n.1177-151T>G
ENST00000540732.3:c.1270-151T>G	ENSP00000443246.1:n.1270-151T>G
ENST00000544905.1:c.62-215T>G
ENST00000595085.5:c.922+1590T>G	ENSP00000471150.2:n.922+1590T>G
NM_000709.3:c.1168-151T>G	NP_000700.1:n.1168-151T>G
NM_001164783.1:c.1165-151T>G	NP_001158255.1:n.1165-151T>G
NM_000709.4:c.1168-151T>G MANE Select	NP_000700.1:n.1168-151T>G
NM_001164783.2:c.1165-151T>G	NP_001158255.1:n.1165-151T>G