Canonical Allele Identifier: CA507690700

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928565A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422660A>C , CM000681.2:g.41422660A>C	GRCh38
NC_000019.9:g.41928565A>C , CM000681.1:g.41928565A>C	GRCh37
NC_000019.8:g.46620405A>C	NCBI36
NG_013004.1:g.29872A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.885A>C MANE Select	ENSP00000269980.2:p.Ser295=
ENST00000269980.6:c.885A>C	ENSP00000269980.2:p.Ser295=
ENST00000457836.6:c.819A>C	ENSP00000416000.2:p.Ser273=
ENST00000535632.5:n.514A>C
ENST00000540732.3:c.987A>C	ENSP00000443246.1:p.Ser329=
ENST00000542943.5:c.798A>C	ENSP00000440345.1:p.Ser266=
ENST00000545787.1:n.513A>C
ENST00000595085.5:c.885A>C	ENSP00000471150.2:p.Ser295=
NM_000709.3:c.885A>C	NP_000700.1:p.Ser295=
NM_001164783.1:c.882A>C	NP_001158255.1:p.Ser294=
NM_000709.4:c.885A>C MANE Select	NP_000700.1:p.Ser295=
NM_001164783.2:c.882A>C	NP_001158255.1:p.Ser294=