Canonical Allele Identifier: CA406013778

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928920C>T (hg19) ; chr19:g.41423015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423015C>T , CM000681.2:g.41423015C>T	GRCh38
NC_000019.9:g.41928920C>T , CM000681.1:g.41928920C>T	GRCh37
NC_000019.8:g.46620760C>T	NCBI36
NG_013004.1:g.30227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1013C>T MANE Select	ENSP00000269980.2:p.Thr338Ile
ENST00000269980.6:c.1013C>T	ENSP00000269980.2:p.Thr338Ile
ENST00000457836.6:c.1022C>T	ENSP00000416000.2:p.Thr341Ile
ENST00000540732.3:c.1115C>T	ENSP00000443246.1:p.Thr372Ile
ENST00000542943.5:c.926C>T	ENSP00000440345.1:p.Thr309Ile
ENST00000595085.5:c.922+318C>T	ENSP00000471150.2:n.922+318C>T
NM_000709.3:c.1013C>T	NP_000700.1:p.Thr338Ile
NM_001164783.1:c.1010C>T	NP_001158255.1:p.Thr337Ile
NM_000709.4:c.1013C>T MANE Select	NP_000700.1:p.Thr338Ile
NM_001164783.2:c.1010C>T	NP_001158255.1:p.Thr337Ile