Canonical Allele Identifier: CA406015186

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930352G>C (hg19) ; chr19:g.41424447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424447G>C , CM000681.2:g.41424447G>C	GRCh38
NC_000019.9:g.41930352G>C , CM000681.1:g.41930352G>C	GRCh37
NC_000019.8:g.46622192G>C	NCBI36
NG_013004.1:g.31659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1177G>C MANE Select	ENSP00000269980.2:p.Ala393Pro
ENST00000269980.6:c.1177G>C	ENSP00000269980.2:p.Ala393Pro
ENST00000457836.6:c.1186G>C	ENSP00000416000.2:p.Ala396Pro
ENST00000540732.3:c.1279G>C	ENSP00000443246.1:p.Ala427Pro
ENST00000544905.1:c.62-55G>C
ENST00000595085.5:c.922+1750G>C	ENSP00000471150.2:n.922+1750G>C
NM_000709.3:c.1177G>C	NP_000700.1:p.Ala393Pro
NM_001164783.1:c.1174G>C	NP_001158255.1:p.Ala392Pro
NM_000709.4:c.1177G>C MANE Select	NP_000700.1:p.Ala393Pro
NM_001164783.2:c.1174G>C	NP_001158255.1:p.Ala392Pro