Canonical Allele Identifier: CA406013805

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928932G>A (hg19) ; chr19:g.41423027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423027G>A , CM000681.2:g.41423027G>A	GRCh38
NC_000019.9:g.41928932G>A , CM000681.1:g.41928932G>A	GRCh37
NC_000019.8:g.46620772G>A	NCBI36
NG_013004.1:g.30239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1025G>A MANE Select	ENSP00000269980.2:p.Ser342Asn
ENST00000269980.6:c.1025G>A	ENSP00000269980.2:p.Ser342Asn
ENST00000457836.6:c.1034G>A	ENSP00000416000.2:p.Ser345Asn
ENST00000540732.3:c.1127G>A	ENSP00000443246.1:p.Ser376Asn
ENST00000542943.5:c.938G>A	ENSP00000440345.1:p.Ser313Asn
ENST00000595085.5:c.922+330G>A	ENSP00000471150.2:n.922+330G>A
NM_000709.3:c.1025G>A	NP_000700.1:p.Ser342Asn
NM_001164783.1:c.1022G>A	NP_001158255.1:p.Ser341Asn
NM_000709.4:c.1025G>A MANE Select	NP_000700.1:p.Ser342Asn
NM_001164783.2:c.1022G>A	NP_001158255.1:p.Ser341Asn