Canonical Allele Identifier: CA1028607753

Gene: HADHB

Linked Data

• dbSNP Id: rs1672864192
• gnomAD v3: 2-26283063-T-G
• gnomAD v4: 2-26283063-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283063T>G , CM000664.2:g.26283063T>G	GRCh38
NC_000002.11:g.26505931T>G , CM000664.1:g.26505931T>G	GRCh37
NC_000002.10:g.26359435T>G	NCBI36
NG_007294.1:g.43111T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1061+12T>G MANE Select	ENSP00000325136.5:n.1061+12T>G
ENST00000317799.9:c.1061+12T>G	ENSP00000325136.5:n.1061+12T>G
ENST00000405867.7:c.692+12T>G	ENSP00000385411.3:n.692+12T>G
ENST00000494615.1:n.2008+12T>G
ENST00000537713.5:c.1016+12T>G	ENSP00000444295.1:n.1016+12T>G
ENST00000545822.2:c.995+12T>G	ENSP00000442665.1:n.995+12T>G
NM_000183.2:c.1061+12T>G	NP_000174.1:n.1061+12T>G
NM_001281512.1:c.1016+12T>G	NP_001268441.1:n.1016+12T>G
NM_001281513.1:c.995+12T>G	NP_001268442.1:n.995+12T>G
XM_011532803.1:c.1061+12T>G	XP_011531105.1:n.1061+12T>G
XM_011532804.1:c.995+12T>G	XP_011531106.1:n.995+12T>G
XM_024452830.1:c.1031+12T>G	XP_024308598.1:n.1031+12T>G
XM_024452831.1:c.995+12T>G	XP_024308599.1:n.995+12T>G
NM_000183.3:c.1061+12T>G MANE Select	NP_000174.1:n.1061+12T>G
NM_001281513.2:c.995+12T>G	NP_001268442.1:n.995+12T>G
NM_001281512.2:c.1016+12T>G	NP_001268441.1:n.1016+12T>G