Canonical Allele Identifier: CA308515748

Gene: BCKDHA

Linked Data

• dbSNP Id: rs748405960
• gnomAD v4: 19-41410989-C-T
• MyVariant Identifiers: chr19:g.41916894C>T (hg19) ; chr19:g.41410989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410989C>T , CM000681.2:g.41410989C>T	GRCh38
NC_000019.9:g.41916894C>T , CM000681.1:g.41916894C>T	GRCh37
NC_000019.8:g.46608734C>T	NCBI36
NG_013004.1:g.18201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.355C>T MANE Select	ENSP00000269980.2:p.Leu119Phe
ENST00000269980.6:c.355C>T	ENSP00000269980.2:p.Leu119Phe
ENST00000457836.6:c.289C>T	ENSP00000416000.2:p.Leu97Phe
ENST00000538423.5:n.481C>T
ENST00000540732.3:c.457C>T	ENSP00000443246.1:p.Leu153Phe
ENST00000541315.1:c.162C>T
ENST00000542943.5:c.288+173C>T	ENSP00000440345.1:n.288+173C>T
ENST00000595085.5:c.355C>T	ENSP00000471150.2:p.Leu119Phe
NM_000709.3:c.355C>T	NP_000700.1:p.Leu119Phe
NM_001164783.1:c.355C>T	NP_001158255.1:p.Leu119Phe
NM_000709.4:c.355C>T MANE Select	NP_000700.1:p.Leu119Phe
NM_001164783.2:c.355C>T	NP_001158255.1:p.Leu119Phe