Canonical Allele Identifier: CA406013811

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928934T>C (hg19) ; chr19:g.41423029T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423029T>C , CM000681.2:g.41423029T>C	GRCh38
NC_000019.9:g.41928934T>C , CM000681.1:g.41928934T>C	GRCh37
NC_000019.8:g.46620774T>C	NCBI36
NG_013004.1:g.30241T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1027T>C MANE Select	ENSP00000269980.2:p.Ser343Pro
ENST00000269980.6:c.1027T>C	ENSP00000269980.2:p.Ser343Pro
ENST00000457836.6:c.1036T>C	ENSP00000416000.2:p.Ser346Pro
ENST00000540732.3:c.1129T>C	ENSP00000443246.1:p.Ser377Pro
ENST00000542943.5:c.940T>C	ENSP00000440345.1:p.Ser314Pro
ENST00000595085.5:c.922+332T>C	ENSP00000471150.2:n.922+332T>C
NM_000709.3:c.1027T>C	NP_000700.1:p.Ser343Pro
NM_001164783.1:c.1024T>C	NP_001158255.1:p.Ser342Pro
NM_000709.4:c.1027T>C MANE Select	NP_000700.1:p.Ser343Pro
NM_001164783.2:c.1024T>C	NP_001158255.1:p.Ser342Pro