Canonical Allele Identifier: CA102862047

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108034692C>A , CM000666.2:g.108034692C>A	GRCh38
NC_000004.11:g.108955848C>A , CM000666.1:g.108955848C>A	GRCh37
NC_000004.10:g.109175297C>A	NCBI36
NG_008156.2:g.49909C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.*335C>A MANE Select	NP_005318.6:n.*335C>A
ENST00000309522.8:c.*335C>A MANE Select	ENSP00000312288.4:n.*335C>A
NM_001184705.2:c.*335C>A	NP_001171634.2:n.*335C>A
NM_001184705.3:c.*335C>A	NP_001171634.2:n.*335C>A
NM_001184705.4:c.*335C>A	NP_001171634.3:n.*335C>A
NM_001331027.1:c.*335C>A	NP_001317956.1:n.*335C>A
NM_001331027.2:c.*335C>A	NP_001317956.2:n.*335C>A
NM_005327.4:c.*335C>A	NP_005318.3:n.*335C>A
ENST00000309522.7:c.*335C>A	ENSP00000312288.3:n.*335C>A
ENST00000403312.5:c.*335C>A	ENSP00000385638.2:n.*335C>A
ENST00000403312.6:c.*335C>A	ENSP00000385638.3:n.*335C>A
ENST00000505878.3:c.*335C>A	ENSP00000425952.1:n.*335C>A
ENST00000505878.4:c.*335C>A	ENSP00000425952.2:n.*335C>A
ENST00000507260.3:n.5799C>A
ENST00000510728.6:n.2399C>A
ENST00000514776.2:n.6128C>A
ENST00000514776.3:n.6128C>A
ENST00000515462.6:n.2776C>A
ENST00000515462.7:n.2776C>A
ENST00000603302.5:c.*335C>A	ENSP00000474560.1:n.*335C>A
ENST00000626637.1:c.1292C>A	ENSP00000486771.1:n.1292C>A
ENST00000626637.2:c.*335C>A	ENSP00000486771.1:n.*335C>A
ENST00000638559.1:c.1138C>A
ENST00000638648.1:n.1431C>A
ENST00000638648.2:c.*673C>A	ENSP00000507949.1:n.*673C>A
ENST00000639146.1:c.*673C>A	ENSP00000492345.1:n.*673C>A
ENST00000639335.1:c.*715C>A	ENSP00000491310.1:n.*715C>A
ENST00000639698.1:c.1087C>A	ENSP00000492420.1:n.1087C>A
ENST00000639784.1:c.944C>A
ENST00000640048.1:c.1252C>A	ENSP00000492009.1:n.1252C>A
ENST00000640060.1:c.*1375C>A	ENSP00000492734.1:n.*1375C>A
ENST00000640201.1:n.1544C>A
ENST00000640201.2:n.1675C>A
ENST00000640752.1:n.5483C>A
ENST00000640752.2:n.5490C>A
ENST00000682067.1:c.757C>A
ENST00000682086.1:n.1503C>A
ENST00000682373.1:c.939C>A
ENST00000684696.1:c.*600C>A	ENSP00000507675.1:n.*600C>A
XM_005262972.1:c.*335C>A	XP_005263029.1:n.*335C>A
XR_001741214.2:n.1505C>A
XR_002959727.1:n.1683C>A
XR_938726.1:n.1738C>A