Canonical Allele Identifier: CA357830330

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108033291T>A , CM000666.2:g.108033291T>A	GRCh38
NC_000004.11:g.108954447T>A , CM000666.1:g.108954447T>A	GRCh37
NC_000004.10:g.109173896T>A	NCBI36
NG_008156.2:g.48508T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.825T>A MANE Select	NP_005318.6:p.Asp275Glu
ENST00000309522.8:c.825T>A MANE Select	ENSP00000312288.4:p.Asp275Glu
NM_001184705.2:c.876T>A	NP_001171634.2:p.Asp292Glu
NM_001184705.3:c.876T>A	NP_001171634.2:p.Asp292Glu
NM_001184705.4:c.876T>A	NP_001171634.3:p.Asp292Glu
NM_001331027.1:c.837T>A	NP_001317956.1:p.Asp279Glu
NM_001331027.2:c.837T>A	NP_001317956.2:p.Asp279Glu
NM_005327.4:c.825T>A	NP_005318.3:p.Asp275Glu
ENST00000309522.7:c.825T>A	ENSP00000312288.3:p.Asp275Glu
ENST00000403312.5:c.1053T>A	ENSP00000385638.2:p.Asp351Glu
ENST00000403312.6:c.834T>A	ENSP00000385638.3:p.Asp278Glu
ENST00000505878.3:c.837T>A	ENSP00000425952.1:p.Asp279Glu
ENST00000505878.4:c.1053T>A	ENSP00000425952.2:p.Asp351Glu
ENST00000507260.3:n.5344T>A
ENST00000510728.5:n.496T>A
ENST00000510728.6:n.1944T>A
ENST00000514776.1:n.292T>A
ENST00000514776.2:n.5673T>A
ENST00000514776.3:n.5673T>A
ENST00000515462.5:n.471T>A
ENST00000515462.6:n.2321T>A
ENST00000515462.7:n.2321T>A
ENST00000603302.5:c.876T>A	ENSP00000474560.1:p.Asp292Glu
ENST00000626637.1:c.837T>A	ENSP00000486771.1:p.Asp279Glu
ENST00000626637.2:c.837T>A	ENSP00000486771.1:p.Asp279Glu
ENST00000638559.1:c.683T>A
ENST00000638621.1:c.411T>A	ENSP00000491581.1:p.Asp137Glu
ENST00000638648.1:n.976T>A
ENST00000638648.2:c.*218T>A	ENSP00000507949.1:n.*218T>A
ENST00000639146.1:c.*218T>A	ENSP00000492345.1:n.*218T>A
ENST00000639335.1:c.*260T>A	ENSP00000491310.1:n.*260T>A
ENST00000639698.1:c.632T>A	ENSP00000492420.1:n.632T>A
ENST00000639784.1:c.489T>A
ENST00000640048.1:c.797T>A	ENSP00000492009.1:n.797T>A
ENST00000640060.1:c.*920T>A	ENSP00000492734.1:n.*920T>A
ENST00000640201.1:n.1089T>A
ENST00000640201.2:n.1220T>A
ENST00000640752.1:n.5028T>A
ENST00000640752.2:n.5035T>A
ENST00000682067.1:c.658T>A
ENST00000682086.1:n.1203T>A
ENST00000682373.1:c.484T>A
ENST00000684696.1:c.*145T>A	ENSP00000507675.1:n.*145T>A
XM_005262972.1:c.837T>A	XP_005263029.1:p.Asp279Glu
XR_001741214.2:n.1050T>A
XR_002959727.1:n.1228T>A
XR_938726.1:n.1283T>A