Canonical Allele Identifier: CA115507
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41424582T>A
GRCh37 chr19:g.41930487T>A
Revel Score:
ENST00000540732 0.953
ENST00000269980 (MANE Select) 0.953
ENST00000457836 0.953
ENST00000544905 0.953
gnomAD v2:
19:41930487 T / A
gnomAD v3:
19:41424582 T / A
gnomAD v4:
chr19-41424582-T-A
Joint Max Group AF 0.00006048 (NFE)
Genomes Max Group AF 0.00017082 (NFE)
Exomes Max Group AF 0.00004906 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424582T>A , CM000681.2:g.41424582T>A GRCh38
NC_000019.9:g.41930487T>A , CM000681.1:g.41930487T>A GRCh37
NC_000019.8:g.46622327T>A NCBI36
NG_013004.1:g.31794T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1312T>A MANE Select ENSP00000269980.2:p.Tyr438Asn
ENST00000269980.6:c.1312T>A ENSP00000269980.2:p.Tyr438Asn
ENST00000457836.6:c.1321T>A ENSP00000416000.2:p.Tyr441Asn
ENST00000540732.3:c.1414T>A ENSP00000443246.1:p.Tyr472Asn
ENST00000544905.1:c.142T>A
ENST00000595085.5:c.922+1885T>A ENSP00000471150.2:n.922+1885T>A
NM_000709.3:c.1312T>A NP_000700.1:p.Tyr438Asn
NM_001164783.1:c.1309T>A NP_001158255.1:p.Tyr437Asn
NM_000709.4:c.1312T>A MANE Select NP_000700.1:p.Tyr438Asn
NM_001164783.2:c.1309T>A NP_001158255.1:p.Tyr437Asn
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