Canonical Allele Identifier: CA102861966

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108034499G>A , CM000666.2:g.108034499G>A	GRCh38
NC_000004.11:g.108955655G>A , CM000666.1:g.108955655G>A	GRCh37
NC_000004.10:g.109175104G>A	NCBI36
NG_008156.2:g.49716G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.*142G>A MANE Select	NP_005318.6:n.*142G>A
ENST00000309522.8:c.*142G>A MANE Select	ENSP00000312288.4:n.*142G>A
NM_001184705.2:c.*142G>A	NP_001171634.2:n.*142G>A
NM_001184705.3:c.*142G>A	NP_001171634.2:n.*142G>A
NM_001184705.4:c.*142G>A	NP_001171634.3:n.*142G>A
NM_001331027.1:c.*142G>A	NP_001317956.1:n.*142G>A
NM_001331027.2:c.*142G>A	NP_001317956.2:n.*142G>A
NM_005327.4:c.*142G>A	NP_005318.3:n.*142G>A
ENST00000309522.7:c.*142G>A	ENSP00000312288.3:n.*142G>A
ENST00000403312.5:c.*142G>A	ENSP00000385638.2:n.*142G>A
ENST00000403312.6:c.*142G>A	ENSP00000385638.3:n.*142G>A
ENST00000505878.3:c.*142G>A	ENSP00000425952.1:n.*142G>A
ENST00000505878.4:c.*142G>A	ENSP00000425952.2:n.*142G>A
ENST00000507260.3:n.5606G>A
ENST00000510728.6:n.2206G>A
ENST00000514776.2:n.5935G>A
ENST00000514776.3:n.5935G>A
ENST00000515462.6:n.2583G>A
ENST00000515462.7:n.2583G>A
ENST00000603302.5:c.*142G>A	ENSP00000474560.1:n.*142G>A
ENST00000626637.1:c.1099G>A	ENSP00000486771.1:n.1099G>A
ENST00000626637.2:c.*142G>A	ENSP00000486771.1:n.*142G>A
ENST00000638559.1:c.945G>A
ENST00000638648.1:n.1238G>A
ENST00000638648.2:c.*480G>A	ENSP00000507949.1:n.*480G>A
ENST00000639146.1:c.*480G>A	ENSP00000492345.1:n.*480G>A
ENST00000639335.1:c.*522G>A	ENSP00000491310.1:n.*522G>A
ENST00000639698.1:c.894G>A	ENSP00000492420.1:n.894G>A
ENST00000639784.1:c.751G>A
ENST00000640048.1:c.1059G>A	ENSP00000492009.1:n.1059G>A
ENST00000640060.1:c.*1182G>A	ENSP00000492734.1:n.*1182G>A
ENST00000640201.1:n.1351G>A
ENST00000640201.2:n.1482G>A
ENST00000640752.1:n.5290G>A
ENST00000640752.2:n.5297G>A
ENST00000682067.1:c.660-96G>A
ENST00000682086.1:n.1405+60G>A
ENST00000682373.1:c.746G>A
ENST00000684696.1:c.*407G>A	ENSP00000507675.1:n.*407G>A
XM_005262972.1:c.*142G>A	XP_005263029.1:n.*142G>A
XR_001741214.2:n.1312G>A
XR_002959727.1:n.1490G>A
XR_938726.1:n.1545G>A