Canonical Allele Identifier: CA406005586

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1165991683
• gnomAD v2: 19-41916862-G-T
• gnomAD v4: 19-41410957-G-T
• MyVariant Identifiers: chr19:g.41916862G>T (hg19) ; chr19:g.41410957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410957G>T , CM000681.2:g.41410957G>T	GRCh38
NC_000019.9:g.41916862G>T , CM000681.1:g.41916862G>T	GRCh37
NC_000019.8:g.46608702G>T	NCBI36
NG_013004.1:g.18169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.323G>T MANE Select	ENSP00000269980.2:p.Ser108Ile
ENST00000269980.6:c.323G>T	ENSP00000269980.2:p.Ser108Ile
ENST00000457836.6:c.257G>T	ENSP00000416000.2:p.Ser86Ile
ENST00000538423.5:n.449G>T
ENST00000540732.3:c.425G>T	ENSP00000443246.1:p.Ser142Ile
ENST00000541315.1:c.130G>T
ENST00000542943.5:c.288+141G>T	ENSP00000440345.1:n.288+141G>T
ENST00000595085.5:c.323G>T	ENSP00000471150.2:p.Ser108Ile
NM_000709.3:c.323G>T	NP_000700.1:p.Ser108Ile
NM_001164783.1:c.323G>T	NP_001158255.1:p.Ser108Ile
NM_000709.4:c.323G>T MANE Select	NP_000700.1:p.Ser108Ile
NM_001164783.2:c.323G>T	NP_001158255.1:p.Ser108Ile