Canonical Allele Identifier: CA406012684

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928084A>C (hg19) ; chr19:g.41422179A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422179A>C , CM000681.2:g.41422179A>C	GRCh38
NC_000019.9:g.41928084A>C , CM000681.1:g.41928084A>C	GRCh37
NC_000019.8:g.46619924A>C	NCBI36
NG_013004.1:g.29391A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.662A>C MANE Select	ENSP00000269980.2:p.Tyr221Ser
ENST00000269980.6:c.662A>C	ENSP00000269980.2:p.Tyr221Ser
ENST00000457836.6:c.596A>C	ENSP00000416000.2:p.Tyr199Ser
ENST00000535632.5:n.291A>C
ENST00000538423.5:n.788A>C
ENST00000540732.3:c.764A>C	ENSP00000443246.1:p.Tyr255Ser
ENST00000541315.1:c.562A>C
ENST00000542943.5:c.575A>C	ENSP00000440345.1:p.Tyr192Ser
ENST00000545787.1:n.290A>C
ENST00000595085.5:c.662A>C	ENSP00000471150.2:p.Tyr221Ser
NM_000709.3:c.662A>C	NP_000700.1:p.Tyr221Ser
NM_001164783.1:c.662A>C	NP_001158255.1:p.Tyr221Ser
NM_000709.4:c.662A>C MANE Select	NP_000700.1:p.Tyr221Ser
NM_001164783.2:c.662A>C	NP_001158255.1:p.Tyr221Ser