Canonical Allele Identifier: CA507555481

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1081710
• ClinVar RCV Id: RCV001397775
• dbSNP Id: rs2123253941
• MyVariant Identifiers: chr19:g.41916664C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410759C>G , CM000681.2:g.41410759C>G	GRCh38
NC_000019.9:g.41916664C>G , CM000681.1:g.41916664C>G	GRCh37
NC_000019.8:g.46608504C>G	NCBI36
NG_013004.1:g.17971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.231C>G MANE Select	ENSP00000269980.2:p.Pro77=
ENST00000269980.6:c.231C>G	ENSP00000269980.2:p.Pro77=
ENST00000457836.6:c.165C>G	ENSP00000416000.2:p.Pro55=
ENST00000538423.5:n.251C>G
ENST00000540732.3:c.333C>G	ENSP00000443246.1:p.Pro111=
ENST00000541315.1:c.38C>G
ENST00000542943.5:c.231C>G	ENSP00000440345.1:p.Pro77=
ENST00000595085.5:c.231C>G	ENSP00000471150.2:p.Pro77=
ENST00000604424.1:n.473C>G
NM_000709.3:c.231C>G	NP_000700.1:p.Pro77=
NM_001164783.1:c.231C>G	NP_001158255.1:p.Pro77=
NM_000709.4:c.231C>G MANE Select	NP_000700.1:p.Pro77=
NM_001164783.2:c.231C>G	NP_001158255.1:p.Pro77=