Canonical Allele Identifier: CA2658216847
Gene: HADHB HGNC NCBI

Linked Data

gnomAD v4: 2-26283061-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26283061A>G , CM000664.2:g.26283061A>G GRCh38
NC_000002.11:g.26505929A>G , CM000664.1:g.26505929A>G GRCh37
NC_000002.10:g.26359433A>G NCBI36
NG_007294.1:g.43109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317799.10:c.1061+10A>G MANE Select ENSP00000325136.5:n.1061+10A>G
ENST00000317799.9:c.1061+10A>G ENSP00000325136.5:n.1061+10A>G
ENST00000405867.7:c.692+10A>G ENSP00000385411.3:n.692+10A>G
ENST00000494615.1:n.2008+10A>G
ENST00000537713.5:c.1016+10A>G ENSP00000444295.1:n.1016+10A>G
ENST00000545822.2:c.995+10A>G ENSP00000442665.1:n.995+10A>G
NM_000183.2:c.1061+10A>G NP_000174.1:n.1061+10A>G
NM_001281512.1:c.1016+10A>G NP_001268441.1:n.1016+10A>G
NM_001281513.1:c.995+10A>G NP_001268442.1:n.995+10A>G
XM_011532803.1:c.1061+10A>G XP_011531105.1:n.1061+10A>G
XM_011532804.1:c.995+10A>G XP_011531106.1:n.995+10A>G
XM_024452830.1:c.1031+10A>G XP_024308598.1:n.1031+10A>G
XM_024452831.1:c.995+10A>G XP_024308599.1:n.995+10A>G
NM_000183.3:c.1061+10A>G MANE Select NP_000174.1:n.1061+10A>G
NM_001281513.2:c.995+10A>G NP_001268442.1:n.995+10A>G
NM_001281512.2:c.1016+10A>G NP_001268441.1:n.1016+10A>G