Canonical Allele Identifier: CA406004599

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916573C>T (hg19) ; chr19:g.41410668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410668C>T , CM000681.2:g.41410668C>T	GRCh38
NC_000019.9:g.41916573C>T , CM000681.1:g.41916573C>T	GRCh37
NC_000019.8:g.46608413C>T	NCBI36
NG_013004.1:g.17880C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.140C>T MANE Select	ENSP00000269980.2:p.Ser47Phe
ENST00000269980.6:c.140C>T	ENSP00000269980.2:p.Ser47Phe
ENST00000457836.6:c.74C>T	ENSP00000416000.2:p.Ser25Phe
ENST00000538423.5:n.160C>T
ENST00000540732.3:c.242C>T	ENSP00000443246.1:p.Ser81Phe
ENST00000542943.5:c.140C>T	ENSP00000440345.1:p.Ser47Phe
ENST00000595085.5:c.140C>T	ENSP00000471150.2:p.Ser47Phe
ENST00000604424.1:n.382C>T
NM_000709.3:c.140C>T	NP_000700.1:p.Ser47Phe
NM_001164783.1:c.140C>T	NP_001158255.1:p.Ser47Phe
NM_000709.4:c.140C>T MANE Select	NP_000700.1:p.Ser47Phe
NM_001164783.2:c.140C>T	NP_001158255.1:p.Ser47Phe