Canonical Allele Identifier: CA2336453960

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1599953385

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411015T>G , CM000681.2:g.41411015T>G	GRCh38
NC_000019.9:g.41916920T>G , CM000681.1:g.41916920T>G	GRCh37
NC_000019.8:g.46608760T>G	NCBI36
NG_013004.1:g.18227T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.375+6T>G MANE Select	ENSP00000269980.2:n.375+6T>G
ENST00000269980.6:c.375+6T>G	ENSP00000269980.2:n.375+6T>G
ENST00000457836.6:c.309+6T>G	ENSP00000416000.2:n.309+6T>G
ENST00000538423.5:n.501+6T>G
ENST00000540732.3:c.477+6T>G	ENSP00000443246.1:n.477+6T>G
ENST00000541315.1:c.182+6T>G
ENST00000542943.5:c.288+199T>G	ENSP00000440345.1:n.288+199T>G
ENST00000595085.5:c.375+6T>G	ENSP00000471150.2:n.375+6T>G
NM_000709.3:c.375+6T>G	NP_000700.1:n.375+6T>G
NM_001164783.1:c.375+6T>G	NP_001158255.1:n.375+6T>G
NM_000709.4:c.375+6T>G MANE Select	NP_000700.1:n.375+6T>G
NM_001164783.2:c.375+6T>G	NP_001158255.1:n.375+6T>G