Canonical Allele Identifier: CA406007762

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41919979A>C (hg19) ; chr19:g.41414074A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414074A>C , CM000681.2:g.41414074A>C	GRCh38
NC_000019.9:g.41919979A>C , CM000681.1:g.41919979A>C	GRCh37
NC_000019.8:g.46611819A>C	NCBI36
NG_013004.1:g.21286A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.401A>C MANE Select	ENSP00000269980.2:p.Asn134Thr
ENST00000269980.6:c.401A>C	ENSP00000269980.2:p.Asn134Thr
ENST00000457836.6:c.335A>C	ENSP00000416000.2:p.Asn112Thr
ENST00000538423.5:n.527A>C
ENST00000540732.3:c.503A>C	ENSP00000443246.1:p.Asn168Thr
ENST00000541315.1:c.208A>C
ENST00000542943.5:c.314A>C	ENSP00000440345.1:p.Asn105Thr
ENST00000595085.5:c.401A>C	ENSP00000471150.2:p.Asn134Thr
NM_000709.3:c.401A>C	NP_000700.1:p.Asn134Thr
NM_001164783.1:c.401A>C	NP_001158255.1:p.Asn134Thr
NM_000709.4:c.401A>C MANE Select	NP_000700.1:p.Asn134Thr
NM_001164783.2:c.401A>C	NP_001158255.1:p.Asn134Thr