Canonical Allele Identifier: CA406013814

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1395580
• ClinVar RCV Id: RCV001919750
• dbSNP Id: rs774735002
• gnomAD v2: 19-41928935-C-G
• gnomAD v4: 19-41423030-C-G
• MyVariant Identifiers: chr19:g.41928935C>G (hg19) ; chr19:g.41423030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423030C>G , CM000681.2:g.41423030C>G	GRCh38
NC_000019.9:g.41928935C>G , CM000681.1:g.41928935C>G	GRCh37
NC_000019.8:g.46620775C>G	NCBI36
NG_013004.1:g.30242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1028C>G MANE Select	ENSP00000269980.2:p.Ser343Ter
ENST00000269980.6:c.1028C>G	ENSP00000269980.2:p.Ser343Ter
ENST00000457836.6:c.1037C>G	ENSP00000416000.2:p.Ser346Ter
ENST00000540732.3:c.1130C>G	ENSP00000443246.1:p.Ser377Ter
ENST00000542943.5:c.941C>G	ENSP00000440345.1:p.Ser314Ter
ENST00000595085.5:c.922+333C>G	ENSP00000471150.2:n.922+333C>G
NM_000709.3:c.1028C>G	NP_000700.1:p.Ser343Ter
NM_001164783.1:c.1025C>G	NP_001158255.1:p.Ser342Ter
NM_000709.4:c.1028C>G MANE Select	NP_000700.1:p.Ser343Ter
NM_001164783.2:c.1025C>G	NP_001158255.1:p.Ser342Ter