Canonical Allele Identifier: CA406004912

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1726679
• ClinVar RCV Id: RCV002310363
• MyVariant Identifiers: chr19:g.41916686C>T (hg19) ; chr19:g.41410781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410781C>T , CM000681.2:g.41410781C>T	GRCh38
NC_000019.9:g.41916686C>T , CM000681.1:g.41916686C>T	GRCh37
NC_000019.8:g.46608526C>T	NCBI36
NG_013004.1:g.17993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.253C>T MANE Select	ENSP00000269980.2:p.Gln85Ter
ENST00000269980.6:c.253C>T	ENSP00000269980.2:p.Gln85Ter
ENST00000457836.6:c.187C>T	ENSP00000416000.2:p.Gln63Ter
ENST00000538423.5:n.273C>T
ENST00000540732.3:c.355C>T	ENSP00000443246.1:p.Gln119Ter
ENST00000541315.1:c.60C>T
ENST00000542943.5:c.253C>T	ENSP00000440345.1:p.Gln85Ter
ENST00000595085.5:c.253C>T	ENSP00000471150.2:p.Gln85Ter
ENST00000604424.1:n.495C>T
NM_000709.3:c.253C>T	NP_000700.1:p.Gln85Ter
NM_001164783.1:c.253C>T	NP_001158255.1:p.Gln85Ter
NM_000709.4:c.253C>T MANE Select	NP_000700.1:p.Gln85Ter
NM_001164783.2:c.253C>T	NP_001158255.1:p.Gln85Ter