Canonical Allele Identifier: CA406013817

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1456845237
• gnomAD v2: 19-41928937-G-A
• gnomAD v4: 19-41423032-G-A
• MyVariant Identifiers: chr19:g.41928937G>A (hg19) ; chr19:g.41423032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423032G>A , CM000681.2:g.41423032G>A	GRCh38
NC_000019.9:g.41928937G>A , CM000681.1:g.41928937G>A	GRCh37
NC_000019.8:g.46620777G>A	NCBI36
NG_013004.1:g.30244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1030G>A MANE Select	ENSP00000269980.2:p.Ala344Thr
ENST00000269980.6:c.1030G>A	ENSP00000269980.2:p.Ala344Thr
ENST00000457836.6:c.1039G>A	ENSP00000416000.2:p.Ala347Thr
ENST00000540732.3:c.1132G>A	ENSP00000443246.1:p.Ala378Thr
ENST00000542943.5:c.943G>A	ENSP00000440345.1:p.Ala315Thr
ENST00000595085.5:c.922+335G>A	ENSP00000471150.2:n.922+335G>A
NM_000709.3:c.1030G>A	NP_000700.1:p.Ala344Thr
NM_001164783.1:c.1027G>A	NP_001158255.1:p.Ala343Thr
NM_000709.4:c.1030G>A MANE Select	NP_000700.1:p.Ala344Thr
NM_001164783.2:c.1027G>A	NP_001158255.1:p.Ala343Thr