Canonical Allele Identifier: CA406013504

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928654T>C (hg19) ; chr19:g.41422749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422749T>C , CM000681.2:g.41422749T>C	GRCh38
NC_000019.9:g.41928654T>C , CM000681.1:g.41928654T>C	GRCh37
NC_000019.8:g.46620494T>C	NCBI36
NG_013004.1:g.29961T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.974T>C MANE Select	ENSP00000269980.2:p.Leu325Pro
ENST00000269980.6:c.974T>C	ENSP00000269980.2:p.Leu325Pro
ENST00000457836.6:c.908T>C	ENSP00000416000.2:p.Leu303Pro
ENST00000535632.5:n.603T>C
ENST00000540732.3:c.1076T>C	ENSP00000443246.1:p.Leu359Pro
ENST00000542943.5:c.887T>C	ENSP00000440345.1:p.Leu296Pro
ENST00000595085.5:c.922+52T>C	ENSP00000471150.2:n.922+52T>C
NM_000709.3:c.974T>C	NP_000700.1:p.Leu325Pro
NM_001164783.1:c.971T>C	NP_001158255.1:p.Leu324Pro
NM_000709.4:c.974T>C MANE Select	NP_000700.1:p.Leu325Pro
NM_001164783.2:c.971T>C	NP_001158255.1:p.Leu324Pro