Canonical Allele Identifier: CA357835828

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948863T>A (hg19) ; chr4:g.108027707T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027707T>A , CM000666.2:g.108027707T>A	GRCh38
NC_000004.11:g.108948863T>A , CM000666.1:g.108948863T>A	GRCh37
NC_000004.10:g.109168312T>A	NCBI36
NG_008156.2:g.42924T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4866T>A
ENST00000510728.6:n.1644T>A
ENST00000514776.3:n.89T>A
ENST00000515462.7:n.1843T>A
ENST00000626637.2:c.668T>A	ENSP00000486771.1:p.Val223Glu
ENST00000638648.2:c.668T>A	ENSP00000507949.1:p.Val223Glu
ENST00000640201.2:n.742T>A
ENST00000640752.2:n.4866T>A
ENST00000682067.1:c.489T>A
ENST00000682086.1:n.725T>A
ENST00000682373.1:c.315T>A
ENST00000684696.1:c.637-232T>A	ENSP00000507675.1:n.637-232T>A
ENST00000309522.8:c.656T>A MANE Select	ENSP00000312288.4:p.Val219Glu
ENST00000403312.6:c.656T>A	ENSP00000385638.3:p.Val219Glu
ENST00000505878.4:c.833T>A	ENSP00000425952.2:p.Val278Glu
ENST00000514776.2:n.89T>A
ENST00000515462.6:n.1843T>A
ENST00000638559.1:c.514T>A
ENST00000638621.1:c.242T>A	ENSP00000491581.1:p.Val81Glu
ENST00000638648.1:n.807T>A
ENST00000639146.1:c.656T>A	ENSP00000492345.1:p.Val219Glu
ENST00000639335.1:c.*91T>A	ENSP00000491310.1:n.*91T>A
ENST00000639698.1:c.516+4144T>A	ENSP00000492420.1:n.516+4144T>A
ENST00000639784.1:c.373+4144T>A
ENST00000640048.1:c.628T>A	ENSP00000492009.1:n.628T>A
ENST00000640060.1:c.*751T>A	ENSP00000492734.1:n.*751T>A
ENST00000640201.1:n.611T>A
ENST00000640752.1:n.4859T>A
ENST00000309522.7:c.656T>A	ENSP00000312288.3:p.Val219Glu
ENST00000403312.5:c.833T>A	ENSP00000385638.2:p.Val278Glu
ENST00000505878.3:c.668T>A	ENSP00000425952.1:p.Val223Glu
ENST00000507260.1:n.356T>A
ENST00000510728.5:n.196T>A
ENST00000603302.5:c.656T>A	ENSP00000474560.1:p.Val219Glu
ENST00000626637.1:c.668T>A	ENSP00000486771.1:p.Val223Glu
NM_001184705.2:c.656T>A	NP_001171634.2:p.Val219Glu
NM_005327.4:c.656T>A	NP_005318.3:p.Val219Glu
XM_005262972.1:c.668T>A	XP_005263029.1:p.Val223Glu
XR_938726.1:n.805T>A
NM_001331027.1:c.668T>A	NP_001317956.1:p.Val223Glu
XR_001741214.2:n.750T>A
XR_002959727.1:n.750T>A
NM_001184705.3:c.656T>A	NP_001171634.2:p.Val219Glu
NM_005327.7:c.656T>A MANE Select	NP_005318.6:p.Val219Glu
NM_001184705.4:c.656T>A	NP_001171634.3:p.Val219Glu
NM_001331027.2:c.668T>A	NP_001317956.2:p.Val223Glu