Canonical Allele Identifier: CA406013816

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928937G>C (hg19) ; chr19:g.41423032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423032G>C , CM000681.2:g.41423032G>C	GRCh38
NC_000019.9:g.41928937G>C , CM000681.1:g.41928937G>C	GRCh37
NC_000019.8:g.46620777G>C	NCBI36
NG_013004.1:g.30244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1030G>C MANE Select	ENSP00000269980.2:p.Ala344Pro
ENST00000269980.6:c.1030G>C	ENSP00000269980.2:p.Ala344Pro
ENST00000457836.6:c.1039G>C	ENSP00000416000.2:p.Ala347Pro
ENST00000540732.3:c.1132G>C	ENSP00000443246.1:p.Ala378Pro
ENST00000542943.5:c.943G>C	ENSP00000440345.1:p.Ala315Pro
ENST00000595085.5:c.922+335G>C	ENSP00000471150.2:n.922+335G>C
NM_000709.3:c.1030G>C	NP_000700.1:p.Ala344Pro
NM_001164783.1:c.1027G>C	NP_001158255.1:p.Ala343Pro
NM_000709.4:c.1030G>C MANE Select	NP_000700.1:p.Ala344Pro
NM_001164783.2:c.1027G>C	NP_001158255.1:p.Ala343Pro