Canonical Allele Identifier: CA102880079

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948869G>T (hg19) ; chr4:g.108027713G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027713G>T , CM000666.2:g.108027713G>T	GRCh38
NC_000004.11:g.108948869G>T , CM000666.1:g.108948869G>T	GRCh37
NC_000004.10:g.109168318G>T	NCBI36
NG_008156.2:g.42930G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4872G>T
ENST00000510728.6:n.1650G>T
ENST00000514776.3:n.95G>T
ENST00000515462.7:n.1849G>T
ENST00000626637.2:c.674G>T	ENSP00000486771.1:p.Arg225Leu
ENST00000638648.2:c.674G>T	ENSP00000507949.1:p.Arg225Leu
ENST00000640201.2:n.748G>T
ENST00000640752.2:n.4872G>T
ENST00000682067.1:c.495G>T
ENST00000682086.1:n.731G>T
ENST00000682373.1:c.321G>T
ENST00000684696.1:c.637-226G>T	ENSP00000507675.1:n.637-226G>T
ENST00000309522.8:c.662G>T MANE Select	ENSP00000312288.4:p.Arg221Leu
ENST00000403312.6:c.662G>T	ENSP00000385638.3:p.Arg221Leu
ENST00000505878.4:c.839G>T	ENSP00000425952.2:p.Arg280Leu
ENST00000514776.2:n.95G>T
ENST00000515462.6:n.1849G>T
ENST00000638559.1:c.520G>T
ENST00000638621.1:c.248G>T	ENSP00000491581.1:p.Arg83Leu
ENST00000638648.1:n.813G>T
ENST00000639146.1:c.662G>T	ENSP00000492345.1:p.Arg221Leu
ENST00000639335.1:c.*97G>T	ENSP00000491310.1:n.*97G>T
ENST00000639698.1:c.516+4150G>T	ENSP00000492420.1:n.516+4150G>T
ENST00000639784.1:c.373+4150G>T
ENST00000640048.1:c.634G>T	ENSP00000492009.1:n.634G>T
ENST00000640060.1:c.*757G>T	ENSP00000492734.1:n.*757G>T
ENST00000640201.1:n.617G>T
ENST00000640752.1:n.4865G>T
ENST00000309522.7:c.662G>T	ENSP00000312288.3:p.Arg221Leu
ENST00000403312.5:c.839G>T	ENSP00000385638.2:p.Arg280Leu
ENST00000505878.3:c.674G>T	ENSP00000425952.1:p.Arg225Leu
ENST00000507260.1:n.362G>T
ENST00000510728.5:n.202G>T
ENST00000603302.5:c.662G>T	ENSP00000474560.1:p.Arg221Leu
ENST00000626637.1:c.674G>T	ENSP00000486771.1:p.Arg225Leu
NM_001184705.2:c.662G>T	NP_001171634.2:p.Arg221Leu
NM_005327.4:c.662G>T	NP_005318.3:p.Arg221Leu
XM_005262972.1:c.674G>T	XP_005263029.1:p.Arg225Leu
XR_938726.1:n.811G>T
NM_001331027.1:c.674G>T	NP_001317956.1:p.Arg225Leu
XR_001741214.2:n.756G>T
XR_002959727.1:n.756G>T
NM_001184705.3:c.662G>T	NP_001171634.2:p.Arg221Leu
NM_005327.7:c.662G>T MANE Select	NP_005318.6:p.Arg221Leu
NM_001184705.4:c.662G>T	NP_001171634.3:p.Arg221Leu
NM_001331027.2:c.674G>T	NP_001317956.2:p.Arg225Leu