Canonical Allele Identifier: CA507557772

Gene: BCKDHA

Linked Data

• dbSNP Id: rs748925009
• gnomAD v2: 19-41920004-G-C
• gnomAD v3: 19-41414099-G-C
• gnomAD v4: 19-41414099-G-C
• MyVariant Identifiers: chr19:g.41920004G>C (hg19) ; chr19:g.41414099G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414099G>C , CM000681.2:g.41414099G>C	GRCh38
NC_000019.9:g.41920004G>C , CM000681.1:g.41920004G>C	GRCh37
NC_000019.8:g.46611844G>C	NCBI36
NG_013004.1:g.21311G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.426G>C MANE Select	ENSP00000269980.2:p.Val142=
ENST00000269980.6:c.426G>C	ENSP00000269980.2:p.Val142=
ENST00000457836.6:c.360G>C	ENSP00000416000.2:p.Val120=
ENST00000538423.5:n.552G>C
ENST00000540732.3:c.528G>C	ENSP00000443246.1:p.Val176=
ENST00000541315.1:c.233G>C
ENST00000542943.5:c.339G>C	ENSP00000440345.1:p.Val113=
ENST00000595085.5:c.426G>C	ENSP00000471150.2:p.Val142=
NM_000709.3:c.426G>C	NP_000700.1:p.Val142=
NM_001164783.1:c.426G>C	NP_001158255.1:p.Val142=
NM_000709.4:c.426G>C MANE Select	NP_000700.1:p.Val142=
NM_001164783.2:c.426G>C	NP_001158255.1:p.Val142=