Canonical Allele Identifier: CA308524001

Gene: BCKDHA

Linked Data

• dbSNP Id: rs962483414
• gnomAD v4: 19-41422161-C-T
• MyVariant Identifiers: chr19:g.41928066C>T (hg19) ; chr19:g.41422161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422161C>T , CM000681.2:g.41422161C>T	GRCh38
NC_000019.9:g.41928066C>T , CM000681.1:g.41928066C>T	GRCh37
NC_000019.8:g.46619906C>T	NCBI36
NG_013004.1:g.29373C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.647-3C>T MANE Select	ENSP00000269980.2:n.647-3C>T
ENST00000269980.6:c.647-3C>T	ENSP00000269980.2:n.647-3C>T
ENST00000457836.6:c.581-3C>T	ENSP00000416000.2:n.581-3C>T
ENST00000535632.5:n.276-3C>T
ENST00000538423.5:n.773-3C>T
ENST00000540732.3:c.749-3C>T	ENSP00000443246.1:n.749-3C>T
ENST00000541315.1:c.547-3C>T
ENST00000542943.5:c.560-3C>T	ENSP00000440345.1:n.560-3C>T
ENST00000545787.1:n.275-3C>T
ENST00000595085.5:c.647-3C>T	ENSP00000471150.2:n.647-3C>T
NM_000709.3:c.647-3C>T	NP_000700.1:n.647-3C>T
NM_001164783.1:c.647-3C>T	NP_001158255.1:n.647-3C>T
NM_000709.4:c.647-3C>T MANE Select	NP_000700.1:n.647-3C>T
NM_001164783.2:c.647-3C>T	NP_001158255.1:n.647-3C>T