Canonical Allele Identifier: CA406007665

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41919967T>C (hg19) ; chr19:g.41414062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414062T>C , CM000681.2:g.41414062T>C	GRCh38
NC_000019.9:g.41919967T>C , CM000681.1:g.41919967T>C	GRCh37
NC_000019.8:g.46611807T>C	NCBI36
NG_013004.1:g.21274T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.389T>C MANE Select	ENSP00000269980.2:p.Phe130Ser
ENST00000269980.6:c.389T>C	ENSP00000269980.2:p.Phe130Ser
ENST00000457836.6:c.323T>C	ENSP00000416000.2:p.Phe108Ser
ENST00000538423.5:n.515T>C
ENST00000540732.3:c.491T>C	ENSP00000443246.1:p.Phe164Ser
ENST00000541315.1:c.196T>C
ENST00000542943.5:c.302T>C	ENSP00000440345.1:p.Phe101Ser
ENST00000595085.5:c.389T>C	ENSP00000471150.2:p.Phe130Ser
NM_000709.3:c.389T>C	NP_000700.1:p.Phe130Ser
NM_001164783.1:c.389T>C	NP_001158255.1:p.Phe130Ser
NM_000709.4:c.389T>C MANE Select	NP_000700.1:p.Phe130Ser
NM_001164783.2:c.389T>C	NP_001158255.1:p.Phe130Ser