Canonical Allele Identifier: CA507560679

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2098470870
• MyVariant Identifiers: chr19:g.41930402C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424497C>T , CM000681.2:g.41424497C>T	GRCh38
NC_000019.9:g.41930402C>T , CM000681.1:g.41930402C>T	GRCh37
NC_000019.8:g.46622242C>T	NCBI36
NG_013004.1:g.31709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1227C>T MANE Select	ENSP00000269980.2:p.Phe409=
ENST00000269980.6:c.1227C>T	ENSP00000269980.2:p.Phe409=
ENST00000457836.6:c.1236C>T	ENSP00000416000.2:p.Phe412=
ENST00000540732.3:c.1329C>T	ENSP00000443246.1:p.Phe443=
ENST00000544905.1:c.62-5C>T
ENST00000595085.5:c.922+1800C>T	ENSP00000471150.2:n.922+1800C>T
NM_000709.3:c.1227C>T	NP_000700.1:p.Phe409=
NM_001164783.1:c.1224C>T	NP_001158255.1:p.Phe408=
NM_000709.4:c.1227C>T MANE Select	NP_000700.1:p.Phe409=
NM_001164783.2:c.1224C>T	NP_001158255.1:p.Phe408=