Canonical Allele Identifier: CA1483969412

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027741A= , CM000666.2:g.108027741A=	GRCh38
NC_000004.11:g.108948897A= , CM000666.1:g.108948897A=	GRCh37
NC_000004.10:g.109168346A=	NCBI36
NG_008156.2:g.42958A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4900A=
ENST00000510728.6:n.1678A=
ENST00000514776.3:n.123A=
ENST00000515462.7:n.1877A=
ENST00000626637.2:c.702A=	ENSP00000486771.1:p.Ala234=
ENST00000638648.2:c.702A=	ENSP00000507949.1:p.Ala234=
ENST00000640201.2:n.776A=
ENST00000640752.2:n.4900A=
ENST00000682067.1:c.523A=
ENST00000682086.1:n.759A=
ENST00000682373.1:c.349A=
ENST00000684696.1:c.637-198A=	ENSP00000507675.1:n.637-198A=
ENST00000309522.8:c.690A= MANE Select	ENSP00000312288.4:p.Ala230=
ENST00000403312.6:c.690A=	ENSP00000385638.3:p.Ala230=
ENST00000505878.4:c.867A=	ENSP00000425952.2:p.Ala289=
ENST00000514776.2:n.123A=
ENST00000515462.6:n.1877A=
ENST00000638559.1:c.548A=
ENST00000638621.1:c.276A=	ENSP00000491581.1:p.Ala92=
ENST00000638648.1:n.841A=
ENST00000639146.1:c.690A=	ENSP00000492345.1:p.Ala230=
ENST00000639335.1:c.*125A=	ENSP00000491310.1:n.*125A=
ENST00000639698.1:c.516+4178A=	ENSP00000492420.1:n.516+4178A=
ENST00000639784.1:c.373+4178A=
ENST00000640048.1:c.662A=	ENSP00000492009.1:n.662A=
ENST00000640060.1:c.*785A=	ENSP00000492734.1:n.*785A=
ENST00000640201.1:n.645A=
ENST00000640752.1:n.4893A=
ENST00000309522.7:c.690A=	ENSP00000312288.3:p.Ala230=
ENST00000403312.5:c.867A=	ENSP00000385638.2:p.Ala289=
ENST00000505878.3:c.702A=	ENSP00000425952.1:p.Ala234=
ENST00000507260.1:n.390A=
ENST00000510728.5:n.230A=
ENST00000515462.5:n.27A=
ENST00000603302.5:c.690A=	ENSP00000474560.1:p.Ala230=
ENST00000626637.1:c.702A=	ENSP00000486771.1:p.Ala234=
NM_001184705.2:c.690A=	NP_001171634.2:p.Ala230=
NM_005327.4:c.690A=	NP_005318.3:p.Ala230=
XM_005262972.1:c.702A=	XP_005263029.1:p.Ala234=
XR_938726.1:n.839A=
NM_001331027.1:c.702A=	NP_001317956.1:p.Ala234=
XR_001741214.2:n.784A=
XR_002959727.1:n.784A=
NM_001184705.3:c.690A=	NP_001171634.2:p.Ala230=
NM_005327.7:c.690A= MANE Select	NP_005318.6:p.Ala230=
NM_001184705.4:c.690A=	NP_001171634.3:p.Ala230=
NM_001331027.2:c.702A=	NP_001317956.2:p.Ala234=