Canonical Allele Identifier: CA507560703

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1253993317
• gnomAD v3: 19-41424542-G-A
• gnomAD v4: 19-41424542-G-A
• MyVariant Identifiers: chr19:g.41930447G>A (hg19) ; chr19:g.41424542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424542G>A , CM000681.2:g.41424542G>A	GRCh38
NC_000019.9:g.41930447G>A , CM000681.1:g.41930447G>A	GRCh37
NC_000019.8:g.46622287G>A	NCBI36
NG_013004.1:g.31754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1272G>A MANE Select	ENSP00000269980.2:p.Gln424=
ENST00000269980.6:c.1272G>A	ENSP00000269980.2:p.Gln424=
ENST00000457836.6:c.1281G>A	ENSP00000416000.2:p.Gln427=
ENST00000540732.3:c.1374G>A	ENSP00000443246.1:p.Gln458=
ENST00000544905.1:c.102G>A
ENST00000595085.5:c.922+1845G>A	ENSP00000471150.2:n.922+1845G>A
NM_000709.3:c.1272G>A	NP_000700.1:p.Gln424=
NM_001164783.1:c.1269G>A	NP_001158255.1:p.Gln423=
NM_000709.4:c.1272G>A MANE Select	NP_000700.1:p.Gln424=
NM_001164783.2:c.1269G>A	NP_001158255.1:p.Gln423=