Canonical Allele Identifier: CA507690785

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1599962282
• gnomAD v4: 19-41423028-T-C
• MyVariant Identifiers: chr19:g.41928933T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423028T>C , CM000681.2:g.41423028T>C	GRCh38
NC_000019.9:g.41928933T>C , CM000681.1:g.41928933T>C	GRCh37
NC_000019.8:g.46620773T>C	NCBI36
NG_013004.1:g.30240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1026T>C MANE Select	ENSP00000269980.2:p.Ser342=
ENST00000269980.6:c.1026T>C	ENSP00000269980.2:p.Ser342=
ENST00000457836.6:c.1035T>C	ENSP00000416000.2:p.Ser345=
ENST00000540732.3:c.1128T>C	ENSP00000443246.1:p.Ser376=
ENST00000542943.5:c.939T>C	ENSP00000440345.1:p.Ser313=
ENST00000595085.5:c.922+331T>C	ENSP00000471150.2:n.922+331T>C
NM_000709.3:c.1026T>C	NP_000700.1:p.Ser342=
NM_001164783.1:c.1023T>C	NP_001158255.1:p.Ser341=
NM_000709.4:c.1026T>C MANE Select	NP_000700.1:p.Ser342=
NM_001164783.2:c.1023T>C	NP_001158255.1:p.Ser341=