Canonical Allele Identifier: CA406013408

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1969692
• ClinVar RCV Id: RCV002717311
• gnomAD v4: 19-41422700-G-T
• MyVariant Identifiers: chr19:g.41928605G>T (hg19) ; chr19:g.41422700G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422700G>T , CM000681.2:g.41422700G>T	GRCh38
NC_000019.9:g.41928605G>T , CM000681.1:g.41928605G>T	GRCh37
NC_000019.8:g.46620445G>T	NCBI36
NG_013004.1:g.29912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.925G>T MANE Select	ENSP00000269980.2:p.Ala309Ser
ENST00000269980.6:c.925G>T	ENSP00000269980.2:p.Ala309Ser
ENST00000457836.6:c.859G>T	ENSP00000416000.2:p.Ala287Ser
ENST00000535632.5:n.554G>T
ENST00000540732.3:c.1027G>T	ENSP00000443246.1:p.Ala343Ser
ENST00000542943.5:c.838G>T	ENSP00000440345.1:p.Ala280Ser
ENST00000545787.1:n.553G>T
ENST00000595085.5:c.922+3G>T	ENSP00000471150.2:n.922+3G>T
NM_000709.3:c.925G>T	NP_000700.1:p.Ala309Ser
NM_001164783.1:c.922G>T	NP_001158255.1:p.Ala308Ser
NM_000709.4:c.925G>T MANE Select	NP_000700.1:p.Ala309Ser
NM_001164783.2:c.922G>T	NP_001158255.1:p.Ala308Ser