Canonical Allele Identifier: CA308515276

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1114780
• ClinVar RCV Id: RCV001442603
• dbSNP Id: rs149251798
• gnomAD v2: 19-41916619-A-T
• gnomAD v4: 19-41410714-A-T
• MyVariant Identifiers: chr19:g.41916619A>T (hg19) ; chr19:g.41410714A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410714A>T , CM000681.2:g.41410714A>T	GRCh38
NC_000019.9:g.41916619A>T , CM000681.1:g.41916619A>T	GRCh37
NC_000019.8:g.46608459A>T	NCBI36
NG_013004.1:g.17926A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.186A>T MANE Select	ENSP00000269980.2:p.Ile62=
ENST00000269980.6:c.186A>T	ENSP00000269980.2:p.Ile62=
ENST00000457836.6:c.120A>T	ENSP00000416000.2:p.Ile40=
ENST00000538423.5:n.206A>T
ENST00000540732.3:c.288A>T	ENSP00000443246.1:p.Ile96=
ENST00000542943.5:c.186A>T	ENSP00000440345.1:p.Ile62=
ENST00000595085.5:c.186A>T	ENSP00000471150.2:p.Ile62=
ENST00000604424.1:n.428A>T
NM_000709.3:c.186A>T	NP_000700.1:p.Ile62=
NM_001164783.1:c.186A>T	NP_001158255.1:p.Ile62=
NM_000709.4:c.186A>T MANE Select	NP_000700.1:p.Ile62=
NM_001164783.2:c.186A>T	NP_001158255.1:p.Ile62=