Canonical Allele Identifier: CA308525209

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2996232
• ClinVar RCV Id: RCV003856383
• dbSNP Id: rs1028256198
• gnomAD v4: 19-41422985-T-C
• MyVariant Identifiers: chr19:g.41928890T>C (hg19) ; chr19:g.41422985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422985T>C , CM000681.2:g.41422985T>C	GRCh38
NC_000019.9:g.41928890T>C , CM000681.1:g.41928890T>C	GRCh37
NC_000019.8:g.46620730T>C	NCBI36
NG_013004.1:g.30197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-13T>C MANE Select	ENSP00000269980.2:n.996-13T>C
ENST00000269980.6:c.996-13T>C	ENSP00000269980.2:n.996-13T>C
ENST00000457836.6:c.992T>C	ENSP00000416000.2:p.Leu331Ser
ENST00000540732.3:c.1098-13T>C	ENSP00000443246.1:n.1098-13T>C
ENST00000542943.5:c.909-13T>C	ENSP00000440345.1:n.909-13T>C
ENST00000595085.5:c.922+288T>C	ENSP00000471150.2:n.922+288T>C
NM_000709.3:c.996-13T>C	NP_000700.1:n.996-13T>C
NM_001164783.1:c.993-13T>C	NP_001158255.1:n.993-13T>C
NM_000709.4:c.996-13T>C MANE Select	NP_000700.1:n.996-13T>C
NM_001164783.2:c.993-13T>C	NP_001158255.1:n.993-13T>C