Canonical Allele Identifier: CA357830114
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108033191A>G , CM000666.2:g.108033191A>G GRCh38
NC_000004.11:g.108954347A>G , CM000666.1:g.108954347A>G GRCh37
NC_000004.10:g.109173796A>G NCBI36
NG_008156.2:g.48408A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.725A>G MANE Select NP_005318.6:p.Glu242Gly
ENST00000309522.8:c.725A>G MANE Select ENSP00000312288.4:p.Glu242Gly
NM_001184705.2:c.776A>G NP_001171634.2:p.Glu259Gly
NM_001184705.3:c.776A>G NP_001171634.2:p.Glu259Gly
NM_001184705.4:c.776A>G NP_001171634.3:p.Glu259Gly
NM_001331027.1:c.737A>G NP_001317956.1:p.Glu246Gly
NM_001331027.2:c.737A>G NP_001317956.2:p.Glu246Gly
NM_005327.4:c.725A>G NP_005318.3:p.Glu242Gly
ENST00000309522.7:c.725A>G ENSP00000312288.3:p.Glu242Gly
ENST00000403312.5:c.953A>G ENSP00000385638.2:p.Glu318Gly
ENST00000403312.6:c.734A>G ENSP00000385638.3:p.Glu245Gly
ENST00000505878.3:c.737A>G ENSP00000425952.1:p.Glu246Gly
ENST00000505878.4:c.953A>G ENSP00000425952.2:p.Glu318Gly
ENST00000507260.3:n.5244A>G
ENST00000510728.5:n.396A>G
ENST00000510728.6:n.1844A>G
ENST00000514776.1:n.192A>G
ENST00000514776.2:n.5573A>G
ENST00000514776.3:n.5573A>G
ENST00000515462.5:n.371A>G
ENST00000515462.6:n.2221A>G
ENST00000515462.7:n.2221A>G
ENST00000603302.5:c.776A>G ENSP00000474560.1:p.Glu259Gly
ENST00000626637.1:c.737A>G ENSP00000486771.1:p.Glu246Gly
ENST00000626637.2:c.737A>G ENSP00000486771.1:p.Glu246Gly
ENST00000638559.1:c.583A>G
ENST00000638621.1:c.311A>G ENSP00000491581.1:p.Glu104Gly
ENST00000638648.1:n.876A>G
ENST00000638648.2:c.*118A>G ENSP00000507949.1:n.*118A>G
ENST00000639146.1:c.*118A>G ENSP00000492345.1:n.*118A>G
ENST00000639335.1:c.*160A>G ENSP00000491310.1:n.*160A>G
ENST00000639698.1:c.532A>G ENSP00000492420.1:p.Lys178Glu
ENST00000639784.1:c.389A>G
ENST00000640048.1:c.697A>G ENSP00000492009.1:n.697A>G
ENST00000640060.1:c.*820A>G ENSP00000492734.1:n.*820A>G
ENST00000640201.1:n.989A>G
ENST00000640201.2:n.1120A>G
ENST00000640752.1:n.4928A>G
ENST00000640752.2:n.4935A>G
ENST00000682067.1:c.558A>G
ENST00000682086.1:n.1103A>G
ENST00000682373.1:c.384A>G
ENST00000684696.1:c.*45A>G ENSP00000507675.1:n.*45A>G
XM_005262972.1:c.737A>G XP_005263029.1:p.Glu246Gly
XR_001741214.2:n.950A>G
XR_002959727.1:n.1128A>G
XR_938726.1:n.1183A>G