Canonical Allele Identifier: CA406015572

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1342026228
• gnomAD v4: 19-41424553-C-T
• MyVariant Identifiers: chr19:g.41930458C>T (hg19) ; chr19:g.41424553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424553C>T , CM000681.2:g.41424553C>T	GRCh38
NC_000019.9:g.41930458C>T , CM000681.1:g.41930458C>T	GRCh37
NC_000019.8:g.46622298C>T	NCBI36
NG_013004.1:g.31765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1283C>T MANE Select	ENSP00000269980.2:p.Ala428Val
ENST00000269980.6:c.1283C>T	ENSP00000269980.2:p.Ala428Val
ENST00000457836.6:c.1292C>T	ENSP00000416000.2:p.Ala431Val
ENST00000540732.3:c.1385C>T	ENSP00000443246.1:p.Ala462Val
ENST00000544905.1:c.113C>T
ENST00000595085.5:c.922+1856C>T	ENSP00000471150.2:n.922+1856C>T
NM_000709.3:c.1283C>T	NP_000700.1:p.Ala428Val
NM_001164783.1:c.1280C>T	NP_001158255.1:p.Ala427Val
NM_000709.4:c.1283C>T MANE Select	NP_000700.1:p.Ala428Val
NM_001164783.2:c.1280C>T	NP_001158255.1:p.Ala427Val