Canonical Allele Identifier: CA406005802

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916885G>C (hg19) ; chr19:g.41410980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410980G>C , CM000681.2:g.41410980G>C	GRCh38
NC_000019.9:g.41916885G>C , CM000681.1:g.41916885G>C	GRCh37
NC_000019.8:g.46608725G>C	NCBI36
NG_013004.1:g.18192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.346G>C MANE Select	ENSP00000269980.2:p.Asp116His
ENST00000269980.6:c.346G>C	ENSP00000269980.2:p.Asp116His
ENST00000457836.6:c.280G>C	ENSP00000416000.2:p.Asp94His
ENST00000538423.5:n.472G>C
ENST00000540732.3:c.448G>C	ENSP00000443246.1:p.Asp150His
ENST00000541315.1:c.153G>C
ENST00000542943.5:c.288+164G>C	ENSP00000440345.1:n.288+164G>C
ENST00000595085.5:c.346G>C	ENSP00000471150.2:p.Asp116His
NM_000709.3:c.346G>C	NP_000700.1:p.Asp116His
NM_001164783.1:c.346G>C	NP_001158255.1:p.Asp116His
NM_000709.4:c.346G>C MANE Select	NP_000700.1:p.Asp116His
NM_001164783.2:c.346G>C	NP_001158255.1:p.Asp116His