Canonical Allele Identifier: CA2336459966
Gene: BCKDHA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424330G= , CM000681.2:g.41424330G= GRCh38
NC_000019.9:g.41930235G= , CM000681.1:g.41930235G= GRCh37
NC_000019.8:g.46622075G= NCBI36
NG_013004.1:g.31542G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1168-108G= MANE Select ENSP00000269980.2:n.1168-108G=
ENST00000269980.6:c.1168-108G= ENSP00000269980.2:n.1168-108G=
ENST00000457836.6:c.1177-108G= ENSP00000416000.2:n.1177-108G=
ENST00000540732.3:c.1270-108G= ENSP00000443246.1:n.1270-108G=
ENST00000544905.1:c.62-172G=
ENST00000595085.5:c.922+1633G= ENSP00000471150.2:n.922+1633G=
NM_000709.3:c.1168-108G= NP_000700.1:n.1168-108G=
NM_001164783.1:c.1165-108G= NP_001158255.1:n.1165-108G=
NM_000709.4:c.1168-108G= MANE Select NP_000700.1:n.1168-108G=
NM_001164783.2:c.1165-108G= NP_001158255.1:n.1165-108G=
Search 100 bp 5'
Search 100 bp 3'