Canonical Allele Identifier: CA1483969451

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027758G= , CM000666.2:g.108027758G=	GRCh38
NC_000004.11:g.108948914G= , CM000666.1:g.108948914G=	GRCh37
NC_000004.10:g.109168363G=	NCBI36
NG_008156.2:g.42975G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4917G=
ENST00000510728.6:n.1695G=
ENST00000514776.3:n.140G=
ENST00000515462.7:n.1894G=
ENST00000626637.2:c.719G=	ENSP00000486771.1:p.Arg240=
ENST00000638648.2:c.719G=	ENSP00000507949.1:p.Arg240=
ENST00000640201.2:n.793G=
ENST00000640752.2:n.4917G=
ENST00000682067.1:c.540G=
ENST00000682086.1:n.776G=
ENST00000682373.1:c.366G=
ENST00000684696.1:c.637-181G=	ENSP00000507675.1:n.637-181G=
ENST00000309522.8:c.707G= MANE Select	ENSP00000312288.4:p.Arg236=
ENST00000403312.6:c.707G=	ENSP00000385638.3:p.Arg236=
ENST00000505878.4:c.884G=	ENSP00000425952.2:p.Arg295=
ENST00000514776.2:n.140G=
ENST00000515462.6:n.1894G=
ENST00000638559.1:c.565G=
ENST00000638621.1:c.293G=	ENSP00000491581.1:p.Arg98=
ENST00000638648.1:n.858G=
ENST00000639146.1:c.707G=	ENSP00000492345.1:p.Arg236=
ENST00000639335.1:c.*142G=	ENSP00000491310.1:n.*142G=
ENST00000639698.1:c.516+4195G=	ENSP00000492420.1:n.516+4195G=
ENST00000639784.1:c.373+4195G=
ENST00000640048.1:c.679G=	ENSP00000492009.1:n.679G=
ENST00000640060.1:c.*802G=	ENSP00000492734.1:n.*802G=
ENST00000640201.1:n.662G=
ENST00000640752.1:n.4910G=
ENST00000309522.7:c.707G=	ENSP00000312288.3:p.Arg236=
ENST00000403312.5:c.884G=	ENSP00000385638.2:p.Arg295=
ENST00000505878.3:c.719G=	ENSP00000425952.1:p.Arg240=
ENST00000507260.1:n.407G=
ENST00000510728.5:n.247G=
ENST00000515462.5:n.44G=
ENST00000603302.5:c.707G=	ENSP00000474560.1:p.Arg236=
ENST00000626637.1:c.719G=	ENSP00000486771.1:p.Arg240=
NM_001184705.2:c.707G=	NP_001171634.2:p.Arg236=
NM_005327.4:c.707G=	NP_005318.3:p.Arg236=
XM_005262972.1:c.719G=	XP_005263029.1:p.Arg240=
XR_938726.1:n.856G=
NM_001331027.1:c.719G=	NP_001317956.1:p.Arg240=
XR_001741214.2:n.801G=
XR_002959727.1:n.801G=
NM_001184705.3:c.707G=	NP_001171634.2:p.Arg236=
NM_005327.7:c.707G= MANE Select	NP_005318.6:p.Arg236=
NM_001184705.4:c.707G=	NP_001171634.3:p.Arg236=
NM_001331027.2:c.719G=	NP_001317956.2:p.Arg240=