Canonical Allele Identifier: CA308515736

Gene: BCKDHA

Linked Data

• dbSNP Id: rs952949299
• gnomAD v4: 19-41410963-C-T
• MyVariant Identifiers: chr19:g.41916868C>T (hg19) ; chr19:g.41410963C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410963C>T , CM000681.2:g.41410963C>T	GRCh38
NC_000019.9:g.41916868C>T , CM000681.1:g.41916868C>T	GRCh37
NC_000019.8:g.46608708C>T	NCBI36
NG_013004.1:g.18175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.329C>T MANE Select	ENSP00000269980.2:p.Thr110Ile
ENST00000269980.6:c.329C>T	ENSP00000269980.2:p.Thr110Ile
ENST00000457836.6:c.263C>T	ENSP00000416000.2:p.Thr88Ile
ENST00000538423.5:n.455C>T
ENST00000540732.3:c.431C>T	ENSP00000443246.1:p.Thr144Ile
ENST00000541315.1:c.136C>T
ENST00000542943.5:c.288+147C>T	ENSP00000440345.1:n.288+147C>T
ENST00000595085.5:c.329C>T	ENSP00000471150.2:p.Thr110Ile
NM_000709.3:c.329C>T	NP_000700.1:p.Thr110Ile
NM_001164783.1:c.329C>T	NP_001158255.1:p.Thr110Ile
NM_000709.4:c.329C>T MANE Select	NP_000700.1:p.Thr110Ile
NM_001164783.2:c.329C>T	NP_001158255.1:p.Thr110Ile