Canonical Allele Identifier: CA406004659

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41410697-G-C
• MyVariant Identifiers: chr19:g.41916602G>C (hg19) ; chr19:g.41410697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410697G>C , CM000681.2:g.41410697G>C	GRCh38
NC_000019.9:g.41916602G>C , CM000681.1:g.41916602G>C	GRCh37
NC_000019.8:g.46608442G>C	NCBI36
NG_013004.1:g.17909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.169G>C MANE Select	ENSP00000269980.2:p.Ala57Pro
ENST00000269980.6:c.169G>C	ENSP00000269980.2:p.Ala57Pro
ENST00000457836.6:c.103G>C	ENSP00000416000.2:p.Ala35Pro
ENST00000538423.5:n.189G>C
ENST00000540732.3:c.271G>C	ENSP00000443246.1:p.Ala91Pro
ENST00000542943.5:c.169G>C	ENSP00000440345.1:p.Ala57Pro
ENST00000595085.5:c.169G>C	ENSP00000471150.2:p.Ala57Pro
ENST00000604424.1:n.411G>C
NM_000709.3:c.169G>C	NP_000700.1:p.Ala57Pro
NM_001164783.1:c.169G>C	NP_001158255.1:p.Ala57Pro
NM_000709.4:c.169G>C MANE Select	NP_000700.1:p.Ala57Pro
NM_001164783.2:c.169G>C	NP_001158255.1:p.Ala57Pro