Canonical Allele Identifier: CA1483969461

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027760G= , CM000666.2:g.108027760G=	GRCh38
NC_000004.11:g.108948916G= , CM000666.1:g.108948916G=	GRCh37
NC_000004.10:g.109168365G=	NCBI36
NG_008156.2:g.42977G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4919G=
ENST00000510728.6:n.1697G=
ENST00000514776.3:n.142G=
ENST00000515462.7:n.1896G=
ENST00000626637.2:c.721G=	ENSP00000486771.1:p.Gly241=
ENST00000638648.2:c.721G=	ENSP00000507949.1:p.Gly241=
ENST00000640201.2:n.795G=
ENST00000640752.2:n.4919G=
ENST00000682067.1:c.542G=
ENST00000682086.1:n.778G=
ENST00000682373.1:c.368G=
ENST00000684696.1:c.637-179G=	ENSP00000507675.1:n.637-179G=
ENST00000309522.8:c.709G= MANE Select	ENSP00000312288.4:p.Gly237=
ENST00000403312.6:c.709G=	ENSP00000385638.3:p.Val237=
ENST00000505878.4:c.886G=	ENSP00000425952.2:p.Asp296=
ENST00000514776.2:n.142G=
ENST00000515462.6:n.1896G=
ENST00000638559.1:c.567G=
ENST00000638621.1:c.295G=	ENSP00000491581.1:p.Gly99=
ENST00000638648.1:n.860G=
ENST00000639146.1:c.709G=	ENSP00000492345.1:p.Gly237=
ENST00000639335.1:c.*144G=	ENSP00000491310.1:n.*144G=
ENST00000639698.1:c.516+4197G=	ENSP00000492420.1:n.516+4197G=
ENST00000639784.1:c.373+4197G=
ENST00000640048.1:c.681G=	ENSP00000492009.1:n.681G=
ENST00000640060.1:c.*804G=	ENSP00000492734.1:n.*804G=
ENST00000640201.1:n.664G=
ENST00000640752.1:n.4912G=
ENST00000309522.7:c.709G=	ENSP00000312288.3:p.Gly237=
ENST00000403312.5:c.886G=	ENSP00000385638.2:p.Asp296=
ENST00000505878.3:c.721G=	ENSP00000425952.1:p.Gly241=
ENST00000507260.1:n.409G=
ENST00000510728.5:n.249G=
ENST00000515462.5:n.46G=
ENST00000603302.5:c.709G=	ENSP00000474560.1:p.Asp237=
ENST00000626637.1:c.721G=	ENSP00000486771.1:p.Gly241=
NM_001184705.2:c.709G=	NP_001171634.2:p.Asp237=
NM_005327.4:c.709G=	NP_005318.3:p.Gly237=
XM_005262972.1:c.721G=	XP_005263029.1:p.Gly241=
XR_938726.1:n.858G=
NM_001331027.1:c.721G=	NP_001317956.1:p.Gly241=
XR_001741214.2:n.803G=
XR_002959727.1:n.803G=
NM_001184705.3:c.709G=	NP_001171634.2:p.Asp237=
NM_005327.7:c.709G= MANE Select	NP_005318.6:p.Gly237=
NM_001184705.4:c.709G=	NP_001171634.3:p.Asp237=
NM_001331027.2:c.721G=	NP_001317956.2:p.Gly241=