Canonical Allele Identifier: CA308525065

Gene: BCKDHA

Linked Data

• dbSNP Id: rs938350712
• gnomAD v2: 19-41928791-C-G
• gnomAD v3: 19-41422886-C-G
• gnomAD v4: 19-41422886-C-G
• MyVariant Identifiers: chr19:g.41928791C>G (hg19) ; chr19:g.41422886C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422886C>G , CM000681.2:g.41422886C>G	GRCh38
NC_000019.9:g.41928791C>G , CM000681.1:g.41928791C>G	GRCh37
NC_000019.8:g.46620631C>G	NCBI36
NG_013004.1:g.30098C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-112C>G MANE Select	ENSP00000269980.2:n.996-112C>G
ENST00000269980.6:c.996-112C>G	ENSP00000269980.2:n.996-112C>G
ENST00000457836.6:c.930-37C>G	ENSP00000416000.2:n.930-37C>G
ENST00000540732.3:c.1098-112C>G	ENSP00000443246.1:n.1098-112C>G
ENST00000542943.5:c.909-112C>G	ENSP00000440345.1:n.909-112C>G
ENST00000595085.5:c.922+189C>G	ENSP00000471150.2:n.922+189C>G
NM_000709.3:c.996-112C>G	NP_000700.1:n.996-112C>G
NM_001164783.1:c.993-112C>G	NP_001158255.1:n.993-112C>G
NM_000709.4:c.996-112C>G MANE Select	NP_000700.1:n.996-112C>G
NM_001164783.2:c.993-112C>G	NP_001158255.1:n.993-112C>G