Canonical Allele Identifier: CA308524880

Gene: BCKDHA

Linked Data

• dbSNP Id: rs918895111
• gnomAD v4: 19-41422725-C-G
• MyVariant Identifiers: chr19:g.41928630C>G (hg19) ; chr19:g.41422725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422725C>G , CM000681.2:g.41422725C>G	GRCh38
NC_000019.9:g.41928630C>G , CM000681.1:g.41928630C>G	GRCh37
NC_000019.8:g.46620470C>G	NCBI36
NG_013004.1:g.29937C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.950C>G MANE Select	ENSP00000269980.2:p.Ala317Gly
ENST00000269980.6:c.950C>G	ENSP00000269980.2:p.Ala317Gly
ENST00000457836.6:c.884C>G	ENSP00000416000.2:p.Ala295Gly
ENST00000535632.5:n.579C>G
ENST00000540732.3:c.1052C>G	ENSP00000443246.1:p.Ala351Gly
ENST00000542943.5:c.863C>G	ENSP00000440345.1:p.Ala288Gly
ENST00000545787.1:n.578C>G
ENST00000595085.5:c.922+28C>G	ENSP00000471150.2:n.922+28C>G
NM_000709.3:c.950C>G	NP_000700.1:p.Ala317Gly
NM_001164783.1:c.947C>G	NP_001158255.1:p.Ala316Gly
NM_000709.4:c.950C>G MANE Select	NP_000700.1:p.Ala317Gly
NM_001164783.2:c.947C>G	NP_001158255.1:p.Ala316Gly