Canonical Allele Identifier: CA995976611

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039378937
• gnomAD v3: 19-41422529-C-T
• gnomAD v4: 19-41422529-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422529C>T , CM000681.2:g.41422529C>T	GRCh38
NC_000019.9:g.41928434C>T , CM000681.1:g.41928434C>T	GRCh37
NC_000019.8:g.46620274C>T	NCBI36
NG_013004.1:g.29741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-100C>T MANE Select	ENSP00000269980.2:n.854-100C>T
ENST00000269980.6:c.854-100C>T	ENSP00000269980.2:n.854-100C>T
ENST00000457836.6:c.788-100C>T	ENSP00000416000.2:n.788-100C>T
ENST00000535632.5:n.483-100C>T
ENST00000540732.3:c.956-100C>T	ENSP00000443246.1:n.956-100C>T
ENST00000542943.5:c.767-100C>T	ENSP00000440345.1:n.767-100C>T
ENST00000545787.1:n.482-100C>T
ENST00000595085.5:c.854-100C>T	ENSP00000471150.2:n.854-100C>T
NM_000709.3:c.854-100C>T	NP_000700.1:n.854-100C>T
NM_001164783.1:c.854-103C>T	NP_001158255.1:n.854-103C>T
NM_000709.4:c.854-100C>T MANE Select	NP_000700.1:n.854-100C>T
NM_001164783.2:c.854-103C>T	NP_001158255.1:n.854-103C>T