Canonical Allele Identifier: CA2735929965

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2122144513

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422593G>T , CM000681.2:g.41422593G>T	GRCh38
NC_000019.9:g.41928498G>T , CM000681.1:g.41928498G>T	GRCh37
NC_000019.8:g.46620338G>T	NCBI36
NG_013004.1:g.29805G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.854-36G>T MANE Select	ENSP00000269980.2:n.854-36G>T
ENST00000269980.6:c.854-36G>T	ENSP00000269980.2:n.854-36G>T
ENST00000457836.6:c.788-36G>T	ENSP00000416000.2:n.788-36G>T
ENST00000535632.5:n.483-36G>T
ENST00000540732.3:c.956-36G>T	ENSP00000443246.1:n.956-36G>T
ENST00000542943.5:c.767-36G>T	ENSP00000440345.1:n.767-36G>T
ENST00000545787.1:n.482-36G>T
ENST00000595085.5:c.854-36G>T	ENSP00000471150.2:n.854-36G>T
NM_000709.3:c.854-36G>T	NP_000700.1:n.854-36G>T
NM_001164783.1:c.854-39G>T	NP_001158255.1:n.854-39G>T
NM_000709.4:c.854-36G>T MANE Select	NP_000700.1:n.854-36G>T
NM_001164783.2:c.854-39G>T	NP_001158255.1:n.854-39G>T