Canonical Allele Identifier: CA102862161

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108034871A>G , CM000666.2:g.108034871A>G	GRCh38
NC_000004.11:g.108956027A>G , CM000666.1:g.108956027A>G	GRCh37
NC_000004.10:g.109175476A>G	NCBI36
NG_008156.2:g.50088A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.*514A>G MANE Select	NP_005318.6:n.*514A>G
ENST00000309522.8:c.*514A>G MANE Select	ENSP00000312288.4:n.*514A>G
NM_001184705.2:c.*514A>G	NP_001171634.2:n.*514A>G
NM_001184705.3:c.*514A>G	NP_001171634.2:n.*514A>G
NM_001184705.4:c.*514A>G	NP_001171634.3:n.*514A>G
NM_001331027.1:c.*514A>G	NP_001317956.1:n.*514A>G
NM_001331027.2:c.*514A>G	NP_001317956.2:n.*514A>G
NM_005327.4:c.*514A>G	NP_005318.3:n.*514A>G
ENST00000309522.7:c.*514A>G	ENSP00000312288.3:n.*514A>G
ENST00000403312.5:c.*514A>G	ENSP00000385638.2:n.*514A>G
ENST00000403312.6:c.*514A>G	ENSP00000385638.3:n.*514A>G
ENST00000505878.3:c.*514A>G	ENSP00000425952.1:n.*514A>G
ENST00000507260.3:n.5978A>G
ENST00000510728.6:n.2578A>G
ENST00000514776.2:n.6307A>G
ENST00000514776.3:n.6307A>G
ENST00000515462.6:n.2955A>G
ENST00000515462.7:n.2955A>G
ENST00000603302.5:c.*514A>G	ENSP00000474560.1:n.*514A>G
ENST00000626637.1:c.1471A>G	ENSP00000486771.1:n.1471A>G
ENST00000626637.2:c.*514A>G	ENSP00000486771.1:n.*514A>G
ENST00000638559.1:c.1317A>G
ENST00000638648.1:n.1610A>G
ENST00000638648.2:c.*852A>G	ENSP00000507949.1:n.*852A>G
ENST00000639146.1:c.*852A>G	ENSP00000492345.1:n.*852A>G
ENST00000639698.1:c.1266A>G	ENSP00000492420.1:n.1266A>G
ENST00000639784.1:c.1123A>G
ENST00000640048.1:c.1431A>G	ENSP00000492009.1:n.1431A>G
ENST00000640060.1:c.*1554A>G	ENSP00000492734.1:n.*1554A>G
ENST00000640201.1:n.1723A>G
ENST00000640201.2:n.1854A>G
ENST00000640752.1:n.5662A>G
ENST00000640752.2:n.5669A>G
ENST00000682067.1:c.936A>G
ENST00000682086.1:n.1682A>G
ENST00000682373.1:c.1118A>G
ENST00000684696.1:c.*779A>G	ENSP00000507675.1:n.*779A>G
XM_005262972.1:c.*514A>G	XP_005263029.1:n.*514A>G
XR_001741214.2:n.1684A>G
XR_002959727.1:n.1862A>G
XR_938726.1:n.1917A>G