Canonical Allele Identifier: CA507560680

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424500-A-C
• MyVariant Identifiers: chr19:g.41930405A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424500A>C , CM000681.2:g.41424500A>C	GRCh38
NC_000019.9:g.41930405A>C , CM000681.1:g.41930405A>C	GRCh37
NC_000019.8:g.46622245A>C	NCBI36
NG_013004.1:g.31712A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1230A>C MANE Select	ENSP00000269980.2:p.Ser410=
ENST00000269980.6:c.1230A>C	ENSP00000269980.2:p.Ser410=
ENST00000457836.6:c.1239A>C	ENSP00000416000.2:p.Ser413=
ENST00000540732.3:c.1332A>C	ENSP00000443246.1:p.Ser444=
ENST00000544905.1:c.62-2A>C
ENST00000595085.5:c.922+1803A>C	ENSP00000471150.2:n.922+1803A>C
NM_000709.3:c.1230A>C	NP_000700.1:p.Ser410=
NM_001164783.1:c.1227A>C	NP_001158255.1:p.Ser409=
NM_000709.4:c.1230A>C MANE Select	NP_000700.1:p.Ser410=
NM_001164783.2:c.1227A>C	NP_001158255.1:p.Ser409=