Canonical Allele Identifier: CA406012703

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039373396
• gnomAD v4: 19-41422188-A-C
• MyVariant Identifiers: chr19:g.41928093A>C (hg19) ; chr19:g.41422188A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422188A>C , CM000681.2:g.41422188A>C	GRCh38
NC_000019.9:g.41928093A>C , CM000681.1:g.41928093A>C	GRCh37
NC_000019.8:g.46619933A>C	NCBI36
NG_013004.1:g.29400A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.671A>C MANE Select	ENSP00000269980.2:p.Lys224Thr
ENST00000269980.6:c.671A>C	ENSP00000269980.2:p.Lys224Thr
ENST00000457836.6:c.605A>C	ENSP00000416000.2:p.Lys202Thr
ENST00000535632.5:n.300A>C
ENST00000538423.5:n.797A>C
ENST00000540732.3:c.773A>C	ENSP00000443246.1:p.Lys258Thr
ENST00000541315.1:c.571A>C
ENST00000542943.5:c.584A>C	ENSP00000440345.1:p.Lys195Thr
ENST00000545787.1:n.299A>C
ENST00000595085.5:c.671A>C	ENSP00000471150.2:p.Lys224Thr
NM_000709.3:c.671A>C	NP_000700.1:p.Lys224Thr
NM_001164783.1:c.671A>C	NP_001158255.1:p.Lys224Thr
NM_000709.4:c.671A>C MANE Select	NP_000700.1:p.Lys224Thr
NM_001164783.2:c.671A>C	NP_001158255.1:p.Lys224Thr