Canonical Allele Identifier: CA406005884

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1315011135
• gnomAD v2: 19-41916893-C-G
• gnomAD v4: 19-41410988-C-G
• MyVariant Identifiers: chr19:g.41916893C>G (hg19) ; chr19:g.41410988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410988C>G , CM000681.2:g.41410988C>G	GRCh38
NC_000019.9:g.41916893C>G , CM000681.1:g.41916893C>G	GRCh37
NC_000019.8:g.46608733C>G	NCBI36
NG_013004.1:g.18200C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.354C>G MANE Select	ENSP00000269980.2:p.Ile118Met
ENST00000269980.6:c.354C>G	ENSP00000269980.2:p.Ile118Met
ENST00000457836.6:c.288C>G	ENSP00000416000.2:p.Ile96Met
ENST00000538423.5:n.480C>G
ENST00000540732.3:c.456C>G	ENSP00000443246.1:p.Ile152Met
ENST00000541315.1:c.161C>G
ENST00000542943.5:c.288+172C>G	ENSP00000440345.1:n.288+172C>G
ENST00000595085.5:c.354C>G	ENSP00000471150.2:p.Ile118Met
NM_000709.3:c.354C>G	NP_000700.1:p.Ile118Met
NM_001164783.1:c.354C>G	NP_001158255.1:p.Ile118Met
NM_000709.4:c.354C>G MANE Select	NP_000700.1:p.Ile118Met
NM_001164783.2:c.354C>G	NP_001158255.1:p.Ile118Met