Canonical Allele Identifier: CA2585308345
Gene: BCKDHA HGNC NCBI

Linked Data

gnomAD v4: 19-41424288-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424288C>A , CM000681.2:g.41424288C>A GRCh38
NC_000019.9:g.41930193C>A , CM000681.1:g.41930193C>A GRCh37
NC_000019.8:g.46622033C>A NCBI36
NG_013004.1:g.31500C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1168-150C>A MANE Select ENSP00000269980.2:n.1168-150C>A
ENST00000269980.6:c.1168-150C>A ENSP00000269980.2:n.1168-150C>A
ENST00000457836.6:c.1177-150C>A ENSP00000416000.2:n.1177-150C>A
ENST00000540732.3:c.1270-150C>A ENSP00000443246.1:n.1270-150C>A
ENST00000544905.1:c.62-214C>A
ENST00000595085.5:c.922+1591C>A ENSP00000471150.2:n.922+1591C>A
NM_000709.3:c.1168-150C>A NP_000700.1:n.1168-150C>A
NM_001164783.1:c.1165-150C>A NP_001158255.1:n.1165-150C>A
NM_000709.4:c.1168-150C>A MANE Select NP_000700.1:n.1168-150C>A
NM_001164783.2:c.1165-150C>A NP_001158255.1:n.1165-150C>A
Search 100 bp 5'
Search 100 bp 3'