Canonical Allele Identifier: CA507555642

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916848G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410943G>C , CM000681.2:g.41410943G>C	GRCh38
NC_000019.9:g.41916848G>C , CM000681.1:g.41916848G>C	GRCh37
NC_000019.8:g.46608688G>C	NCBI36
NG_013004.1:g.18155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.309G>C MANE Select	ENSP00000269980.2:p.Leu103=
ENST00000269980.6:c.309G>C	ENSP00000269980.2:p.Leu103=
ENST00000457836.6:c.243G>C	ENSP00000416000.2:p.Leu81=
ENST00000538423.5:n.435G>C
ENST00000540732.3:c.411G>C	ENSP00000443246.1:p.Leu137=
ENST00000541315.1:c.116G>C
ENST00000542943.5:c.288+127G>C	ENSP00000440345.1:n.288+127G>C
ENST00000595085.5:c.309G>C	ENSP00000471150.2:p.Leu103=
NM_000709.3:c.309G>C	NP_000700.1:p.Leu103=
NM_001164783.1:c.309G>C	NP_001158255.1:p.Leu103=
NM_000709.4:c.309G>C MANE Select	NP_000700.1:p.Leu103=
NM_001164783.2:c.309G>C	NP_001158255.1:p.Leu103=