Canonical Allele Identifier: CA2697547870

Gene: HADHB

Linked Data

• ClinVar Variation Id: 2697857
• ClinVar RCV Id: RCV003510451

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26263489A>T , CM000664.2:g.26263489A>T	GRCh38
NC_000002.11:g.26486357A>T , CM000664.1:g.26486357A>T	GRCh37
NC_000002.10:g.26339861A>T	NCBI36
NG_007294.1:g.23537A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.209+10A>T MANE Select	ENSP00000325136.5:n.209+10A>T
ENST00000317799.9:c.209+10A>T	ENSP00000325136.5:n.209+10A>T
ENST00000405867.7:c.209+10A>T	ENSP00000385411.3:n.209+10A>T
ENST00000412805.5:c.209+10A>T	ENSP00000413103.1:n.209+10A>T
ENST00000425035.5:c.209+10A>T	ENSP00000404633.1:n.209+10A>T
ENST00000448743.5:c.209+10A>T	ENSP00000415300.1:n.209+10A>T
ENST00000494615.1:n.1156+10A>T
ENST00000537713.5:c.209+10A>T	ENSP00000444295.1:n.209+10A>T
ENST00000545822.2:c.143+10A>T	ENSP00000442665.1:n.143+10A>T
NM_000183.2:c.209+10A>T	NP_000174.1:n.209+10A>T
NM_001281512.1:c.209+10A>T	NP_001268441.1:n.209+10A>T
NM_001281513.1:c.143+10A>T	NP_001268442.1:n.143+10A>T
XM_011532803.1:c.209+10A>T	XP_011531105.1:n.209+10A>T
XM_011532804.1:c.143+10A>T	XP_011531106.1:n.143+10A>T
XM_024452830.1:c.179+10A>T	XP_024308598.1:n.179+10A>T
XM_024452831.1:c.143+10A>T	XP_024308599.1:n.143+10A>T
NM_000183.3:c.209+10A>T MANE Select	NP_000174.1:n.209+10A>T
NM_001281513.2:c.143+10A>T	NP_001268442.1:n.143+10A>T
NM_001281512.2:c.209+10A>T	NP_001268441.1:n.209+10A>T