Canonical Allele Identifier: CA119220
Gene: HADH HGNC NCBI

Linked Data

ClinVar Variation Id: 8018
dbSNP Id: rs137853101

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.107990050G>A , CM000666.2:g.107990050G>A GRCh38
NC_000004.11:g.108911206G>A , CM000666.1:g.108911206G>A GRCh37
NC_000004.10:g.109130655G>A NCBI36
NG_008156.2:g.5267G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000507260.3:n.204G>A
ENST00000640201.2:n.204G>A
ENST00000640752.2:n.204G>A
ENST00000681992.1:n.155G>A
ENST00000682197.1:n.202G>A
ENST00000682373.1:c.62G>A
ENST00000684696.1:c.118G>A ENSP00000507675.1:p.Ala40Thr
ENST00000309522.8:c.118G>A MANE Select ENSP00000312288.4:p.Ala40Thr
ENST00000403312.6:c.118G>A ENSP00000385638.3:p.Ala40Thr
ENST00000505878.4:c.295G>A ENSP00000425952.2:p.Ala99Thr
ENST00000507260.2:n.161G>A
ENST00000638559.1:c.105G>A
ENST00000638621.1:c.118G>A ENSP00000491581.1:p.Ala40Thr
ENST00000639013.1:n.193G>A
ENST00000639146.1:c.118G>A ENSP00000492345.1:p.Ala40Thr
ENST00000639335.1:c.118G>A ENSP00000491310.1:p.Ala40Thr
ENST00000640060.1:c.118G>A ENSP00000492734.1:p.Ala40Thr
ENST00000640201.1:n.73G>A
ENST00000640586.1:c.35G>A
ENST00000640752.1:n.197G>A
ENST00000309522.7:c.118G>A ENSP00000312288.3:p.Ala40Thr
ENST00000403312.5:c.295G>A ENSP00000385638.2:p.Ala99Thr
ENST00000505878.3:c.-125G>A ENSP00000425952.1:n.-125G>A
ENST00000511742.1:c.118G>A ENSP00000425254.1:p.Ala40Thr
ENST00000603302.5:c.118G>A ENSP00000474560.1:p.Ala40Thr
NM_001184705.2:c.118G>A NP_001171634.2:p.Ala40Thr
NM_005327.4:c.118G>A NP_005318.3:p.Ala40Thr
XR_938726.1:n.267G>A
XR_001741214.2:n.212G>A
XR_002959727.1:n.212G>A
NM_001184705.3:c.118G>A NP_001171634.2:p.Ala40Thr
NM_005327.7:c.118G>A MANE Select NP_005318.6:p.Ala40Thr
NM_001184705.4:c.118G>A NP_001171634.3:p.Ala40Thr