Canonical Allele Identifier: CA406015625

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930475T>C (hg19) ; chr19:g.41424570T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424570T>C , CM000681.2:g.41424570T>C	GRCh38
NC_000019.9:g.41930475T>C , CM000681.1:g.41930475T>C	GRCh37
NC_000019.8:g.46622315T>C	NCBI36
NG_013004.1:g.31782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1300T>C MANE Select	ENSP00000269980.2:p.Tyr434His
ENST00000269980.6:c.1300T>C	ENSP00000269980.2:p.Tyr434His
ENST00000457836.6:c.1309T>C	ENSP00000416000.2:p.Tyr437His
ENST00000540732.3:c.1402T>C	ENSP00000443246.1:p.Tyr468His
ENST00000544905.1:c.130T>C
ENST00000595085.5:c.922+1873T>C	ENSP00000471150.2:n.922+1873T>C
NM_000709.3:c.1300T>C	NP_000700.1:p.Tyr434His
NM_001164783.1:c.1297T>C	NP_001158255.1:p.Tyr433His
NM_000709.4:c.1300T>C MANE Select	NP_000700.1:p.Tyr434His
NM_001164783.2:c.1297T>C	NP_001158255.1:p.Tyr433His