Canonical Allele Identifier: CA406013386

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928593G>T (hg19) ; chr19:g.41422688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422688G>T , CM000681.2:g.41422688G>T	GRCh38
NC_000019.9:g.41928593G>T , CM000681.1:g.41928593G>T	GRCh37
NC_000019.8:g.46620433G>T	NCBI36
NG_013004.1:g.29900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.913G>T MANE Select	ENSP00000269980.2:p.Ala305Ser
ENST00000269980.6:c.913G>T	ENSP00000269980.2:p.Ala305Ser
ENST00000457836.6:c.847G>T	ENSP00000416000.2:p.Ala283Ser
ENST00000535632.5:n.542G>T
ENST00000540732.3:c.1015G>T	ENSP00000443246.1:p.Ala339Ser
ENST00000542943.5:c.826G>T	ENSP00000440345.1:p.Ala276Ser
ENST00000545787.1:n.541G>T
ENST00000595085.5:c.913G>T	ENSP00000471150.2:p.Ala305Ser
NM_000709.3:c.913G>T	NP_000700.1:p.Ala305Ser
NM_001164783.1:c.910G>T	NP_001158255.1:p.Ala304Ser
NM_000709.4:c.913G>T MANE Select	NP_000700.1:p.Ala305Ser
NM_001164783.2:c.910G>T	NP_001158255.1:p.Ala304Ser