Canonical Allele Identifier: CA9461134
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41414093G>A
GRCh37 chr19:g.41919998G>A
Revel Score:
ENST00000541315 0.031
gnomAD v2:
19:41919998 G / A
gnomAD v3:
19:41414093 G / A
gnomAD v4:
chr19-41414093-G-A
Joint Max Group AF 0.00021636 (NFE)
Genomes Max Group AF 0.00021794 (NFE)
Exomes Max Group AF 0.00021057 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41414093G>A , CM000681.2:g.41414093G>A GRCh38
NC_000019.9:g.41919998G>A , CM000681.1:g.41919998G>A GRCh37
NC_000019.8:g.46611838G>A NCBI36
NG_013004.1:g.21305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.420G>A MANE Select ENSP00000269980.2:p.Thr140=
ENST00000269980.6:c.420G>A ENSP00000269980.2:p.Thr140=
ENST00000457836.6:c.354G>A ENSP00000416000.2:p.Thr118=
ENST00000538423.5:n.546G>A
ENST00000540732.3:c.522G>A ENSP00000443246.1:p.Thr174=
ENST00000541315.1:c.227G>A
ENST00000542943.5:c.333G>A ENSP00000440345.1:p.Thr111=
ENST00000595085.5:c.420G>A ENSP00000471150.2:p.Thr140=
NM_000709.3:c.420G>A NP_000700.1:p.Thr140=
NM_001164783.1:c.420G>A NP_001158255.1:p.Thr140=
NM_000709.4:c.420G>A MANE Select NP_000700.1:p.Thr140=
NM_001164783.2:c.420G>A NP_001158255.1:p.Thr140=
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