Canonical Allele Identifier: CA507690783

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928924T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423019T>C , CM000681.2:g.41423019T>C	GRCh38
NC_000019.9:g.41928924T>C , CM000681.1:g.41928924T>C	GRCh37
NC_000019.8:g.46620764T>C	NCBI36
NG_013004.1:g.30231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1017T>C MANE Select	ENSP00000269980.2:p.Ser339=
ENST00000269980.6:c.1017T>C	ENSP00000269980.2:p.Ser339=
ENST00000457836.6:c.1026T>C	ENSP00000416000.2:p.Ser342=
ENST00000540732.3:c.1119T>C	ENSP00000443246.1:p.Ser373=
ENST00000542943.5:c.930T>C	ENSP00000440345.1:p.Ser310=
ENST00000595085.5:c.922+322T>C	ENSP00000471150.2:n.922+322T>C
NM_000709.3:c.1017T>C	NP_000700.1:p.Ser339=
NM_001164783.1:c.1014T>C	NP_001158255.1:p.Ser338=
NM_000709.4:c.1017T>C MANE Select	NP_000700.1:p.Ser339=
NM_001164783.2:c.1014T>C	NP_001158255.1:p.Ser338=