Canonical Allele Identifier: CA357832737

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108019554C>A , CM000666.2:g.108019554C>A	GRCh38
NC_000004.11:g.108940710C>A , CM000666.1:g.108940710C>A	GRCh37
NC_000004.10:g.109160159C>A	NCBI36
NG_008156.2:g.34771C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.434C>A MANE Select	NP_005318.6:p.Ala145Asp
ENST00000309522.8:c.434C>A MANE Select	ENSP00000312288.4:p.Ala145Asp
NM_001184705.2:c.434C>A	NP_001171634.2:p.Ala145Asp
NM_001184705.3:c.434C>A	NP_001171634.2:p.Ala145Asp
NM_001184705.4:c.434C>A	NP_001171634.3:p.Ala145Asp
NM_001331027.1:c.446C>A	NP_001317956.1:p.Ala149Asp
NM_001331027.2:c.446C>A	NP_001317956.2:p.Ala149Asp
NM_005327.4:c.434C>A	NP_005318.3:p.Ala145Asp
ENST00000309522.7:c.434C>A	ENSP00000312288.3:p.Ala145Asp
ENST00000403312.5:c.611C>A	ENSP00000385638.2:p.Ala204Asp
ENST00000403312.6:c.434C>A	ENSP00000385638.3:p.Ala145Asp
ENST00000505878.3:c.446C>A	ENSP00000425952.1:p.Ala149Asp
ENST00000505878.4:c.611C>A	ENSP00000425952.2:p.Ala204Asp
ENST00000507260.1:n.134C>A
ENST00000507260.2:n.477C>A
ENST00000507260.3:n.520C>A
ENST00000603302.5:c.434C>A	ENSP00000474560.1:p.Ala145Asp
ENST00000626637.1:c.446C>A	ENSP00000486771.1:p.Ala149Asp
ENST00000626637.2:c.446C>A	ENSP00000486771.1:p.Ala149Asp
ENST00000638559.1:c.292C>A
ENST00000638621.1:c.133-3920C>A	ENSP00000491581.1:n.133-3920C>A
ENST00000638648.1:n.585C>A
ENST00000638648.2:c.446C>A	ENSP00000507949.1:p.Ala149Asp
ENST00000639146.1:c.434C>A	ENSP00000492345.1:p.Ala145Asp
ENST00000639335.1:c.420-3920C>A	ENSP00000491310.1:n.420-3920C>A
ENST00000639698.1:c.314C>A	ENSP00000492420.1:p.Ala105Asp
ENST00000639784.1:c.284-3920C>A
ENST00000640048.1:c.272C>A	ENSP00000492009.1:p.Ala91Asp
ENST00000640060.1:c.*529C>A	ENSP00000492734.1:n.*529C>A
ENST00000640201.1:n.389C>A
ENST00000640201.2:n.520C>A
ENST00000640586.1:c.723C>A
ENST00000640752.1:n.513C>A
ENST00000640752.2:n.520C>A
ENST00000682067.1:c.380-3920C>A
ENST00000682197.1:n.518C>A
ENST00000682373.1:c.206-3920C>A
ENST00000684696.1:c.434C>A	ENSP00000507675.1:p.Ala145Asp
XM_005262972.1:c.446C>A	XP_005263029.1:p.Ala149Asp
XR_001741214.2:n.528C>A
XR_002959727.1:n.528C>A
XR_938726.1:n.583C>A