Canonical Allele Identifier: CA406005699

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916873C>T (hg19) ; chr19:g.41410968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410968C>T , CM000681.2:g.41410968C>T	GRCh38
NC_000019.9:g.41916873C>T , CM000681.1:g.41916873C>T	GRCh37
NC_000019.8:g.46608713C>T	NCBI36
NG_013004.1:g.18180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.334C>T MANE Select	ENSP00000269980.2:p.Leu112Phe
ENST00000269980.6:c.334C>T	ENSP00000269980.2:p.Leu112Phe
ENST00000457836.6:c.268C>T	ENSP00000416000.2:p.Leu90Phe
ENST00000538423.5:n.460C>T
ENST00000540732.3:c.436C>T	ENSP00000443246.1:p.Leu146Phe
ENST00000541315.1:c.141C>T
ENST00000542943.5:c.288+152C>T	ENSP00000440345.1:n.288+152C>T
ENST00000595085.5:c.334C>T	ENSP00000471150.2:p.Leu112Phe
NM_000709.3:c.334C>T	NP_000700.1:p.Leu112Phe
NM_001164783.1:c.334C>T	NP_001158255.1:p.Leu112Phe
NM_000709.4:c.334C>T MANE Select	NP_000700.1:p.Leu112Phe
NM_001164783.2:c.334C>T	NP_001158255.1:p.Leu112Phe