Canonical Allele Identifier: CA2585306870

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41411080-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411080G>C , CM000681.2:g.41411080G>C	GRCh38
NC_000019.9:g.41916985G>C , CM000681.1:g.41916985G>C	GRCh37
NC_000019.8:g.46608825G>C	NCBI36
NG_013004.1:g.18292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+71G>C MANE Select	ENSP00000269980.2:n.375+71G>C
ENST00000269980.6:c.375+71G>C	ENSP00000269980.2:n.375+71G>C
ENST00000457836.6:c.309+71G>C	ENSP00000416000.2:n.309+71G>C
ENST00000538423.5:n.501+71G>C
ENST00000540732.3:c.477+71G>C	ENSP00000443246.1:n.477+71G>C
ENST00000541315.1:c.182+71G>C
ENST00000542943.5:c.288+264G>C	ENSP00000440345.1:n.288+264G>C
ENST00000595085.5:c.375+71G>C	ENSP00000471150.2:n.375+71G>C
NM_000709.3:c.375+71G>C	NP_000700.1:n.375+71G>C
NM_001164783.1:c.375+71G>C	NP_001158255.1:n.375+71G>C
NM_000709.4:c.375+71G>C MANE Select	NP_000700.1:n.375+71G>C
NM_001164783.2:c.375+71G>C	NP_001158255.1:n.375+71G>C