Canonical Allele Identifier: CA341341
Gene: HADHB HGNC NCBI

Linked Data

ClinVar Variation Id: 14847
ClinVar RCV Id: RCV003156217
dbSNP Id: rs121913134

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26285513G>A , CM000664.2:g.26285513G>A GRCh38
NC_000002.11:g.26508381G>A , CM000664.1:g.26508381G>A GRCh37
NC_000002.10:g.26361885G>A NCBI36
NG_007294.1:g.45561G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317799.10:c.1331G>A MANE Select ENSP00000325136.5:p.Arg444Lys
ENST00000317799.9:c.1331G>A ENSP00000325136.5:p.Arg444Lys
ENST00000405867.7:c.962G>A ENSP00000385411.3:p.Arg321Lys
ENST00000494615.1:n.2278G>A
ENST00000537713.5:c.1286G>A ENSP00000444295.1:p.Arg429Lys
ENST00000545822.2:c.1265G>A ENSP00000442665.1:p.Arg422Lys
NM_000183.2:c.1331G>A NP_000174.1:p.Arg444Lys
NM_001281512.1:c.1286G>A NP_001268441.1:p.Arg429Lys
NM_001281513.1:c.1265G>A NP_001268442.1:p.Arg422Lys
XM_011532803.1:c.1331G>A XP_011531105.1:p.Arg444Lys
XM_011532804.1:c.1265G>A XP_011531106.1:p.Arg422Lys
XM_024452830.1:c.1301G>A XP_024308598.1:p.Arg434Lys
XM_024452831.1:c.1265G>A XP_024308599.1:p.Arg422Lys
NM_000183.3:c.1331G>A MANE Select NP_000174.1:p.Arg444Lys
NM_001281513.2:c.1265G>A NP_001268442.1:p.Arg422Lys
NM_001281512.2:c.1286G>A NP_001268441.1:p.Arg429Lys