Canonical Allele Identifier: CA406013476

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928642A>G (hg19) ; chr19:g.41422737A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422737A>G , CM000681.2:g.41422737A>G	GRCh38
NC_000019.9:g.41928642A>G , CM000681.1:g.41928642A>G	GRCh37
NC_000019.8:g.46620482A>G	NCBI36
NG_013004.1:g.29949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.962A>G MANE Select	ENSP00000269980.2:p.Asn321Ser
ENST00000269980.6:c.962A>G	ENSP00000269980.2:p.Asn321Ser
ENST00000457836.6:c.896A>G	ENSP00000416000.2:p.Asn299Ser
ENST00000535632.5:n.591A>G
ENST00000540732.3:c.1064A>G	ENSP00000443246.1:p.Asn355Ser
ENST00000542943.5:c.875A>G	ENSP00000440345.1:p.Asn292Ser
ENST00000595085.5:c.922+40A>G	ENSP00000471150.2:n.922+40A>G
NM_000709.3:c.962A>G	NP_000700.1:p.Asn321Ser
NM_001164783.1:c.959A>G	NP_001158255.1:p.Asn320Ser
NM_000709.4:c.962A>G MANE Select	NP_000700.1:p.Asn321Ser
NM_001164783.2:c.959A>G	NP_001158255.1:p.Asn320Ser