Canonical Allele Identifier: CA9461386
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs200202585
ExAC: 19:41930298 G / A
gnomAD v4: 19-41424393-G-A
MyVariant Identifiers: chr19:g.41930298G>A (hg19) chr19:g.41424393G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424393G>A , CM000681.2:g.41424393G>A GRCh38
NC_000019.9:g.41930298G>A , CM000681.1:g.41930298G>A GRCh37
NC_000019.8:g.46622138G>A NCBI36
NG_013004.1:g.31605G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.1168-45G>A MANE Select ENSP00000269980.2:n.1168-45G>A
ENST00000269980.6:c.1168-45G>A ENSP00000269980.2:n.1168-45G>A
ENST00000457836.6:c.1177-45G>A ENSP00000416000.2:n.1177-45G>A
ENST00000540732.3:c.1270-45G>A ENSP00000443246.1:n.1270-45G>A
ENST00000544905.1:c.62-109G>A
ENST00000595085.5:c.922+1696G>A ENSP00000471150.2:n.922+1696G>A
NM_000709.3:c.1168-45G>A NP_000700.1:n.1168-45G>A
NM_001164783.1:c.1165-45G>A NP_001158255.1:n.1165-45G>A
NM_000709.4:c.1168-45G>A MANE Select NP_000700.1:n.1168-45G>A
NM_001164783.2:c.1165-45G>A NP_001158255.1:n.1165-45G>A
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