Canonical Allele Identifier: CA995977414
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs2039404598
gnomAD v3: 19-41424411-C-A
gnomAD v4: 19-41424411-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424411C>A , CM000681.2:g.41424411C>A GRCh38
NC_000019.9:g.41930316C>A , CM000681.1:g.41930316C>A GRCh37
NC_000019.8:g.46622156C>A NCBI36
NG_013004.1:g.31623C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.1168-27C>A MANE Select ENSP00000269980.2:n.1168-27C>A
ENST00000269980.6:c.1168-27C>A ENSP00000269980.2:n.1168-27C>A
ENST00000457836.6:c.1177-27C>A ENSP00000416000.2:n.1177-27C>A
ENST00000540732.3:c.1270-27C>A ENSP00000443246.1:n.1270-27C>A
ENST00000544905.1:c.62-91C>A
ENST00000595085.5:c.922+1714C>A ENSP00000471150.2:n.922+1714C>A
NM_000709.3:c.1168-27C>A NP_000700.1:n.1168-27C>A
NM_001164783.1:c.1165-27C>A NP_001158255.1:n.1165-27C>A
NM_000709.4:c.1168-27C>A MANE Select NP_000700.1:n.1168-27C>A
NM_001164783.2:c.1165-27C>A NP_001158255.1:n.1165-27C>A
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