Canonical Allele Identifier: CA785080914

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108034636C>A , CM000666.2:g.108034636C>A	GRCh38
NC_000004.11:g.108955792C>A , CM000666.1:g.108955792C>A	GRCh37
NC_000004.10:g.109175241C>A	NCBI36
NG_008156.2:g.49853C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.*279C>A MANE Select	NP_005318.6:n.*279C>A
ENST00000309522.8:c.*279C>A MANE Select	ENSP00000312288.4:n.*279C>A
NM_001184705.2:c.*279C>A	NP_001171634.2:n.*279C>A
NM_001184705.3:c.*279C>A	NP_001171634.2:n.*279C>A
NM_001184705.4:c.*279C>A	NP_001171634.3:n.*279C>A
NM_001331027.1:c.*279C>A	NP_001317956.1:n.*279C>A
NM_001331027.2:c.*279C>A	NP_001317956.2:n.*279C>A
NM_005327.4:c.*279C>A	NP_005318.3:n.*279C>A
ENST00000309522.7:c.*279C>A	ENSP00000312288.3:n.*279C>A
ENST00000403312.5:c.*279C>A	ENSP00000385638.2:n.*279C>A
ENST00000403312.6:c.*279C>A	ENSP00000385638.3:n.*279C>A
ENST00000505878.3:c.*279C>A	ENSP00000425952.1:n.*279C>A
ENST00000505878.4:c.*279C>A	ENSP00000425952.2:n.*279C>A
ENST00000507260.3:n.5743C>A
ENST00000510728.6:n.2343C>A
ENST00000514776.2:n.6072C>A
ENST00000514776.3:n.6072C>A
ENST00000515462.6:n.2720C>A
ENST00000515462.7:n.2720C>A
ENST00000603302.5:c.*279C>A	ENSP00000474560.1:n.*279C>A
ENST00000626637.1:c.1236C>A	ENSP00000486771.1:n.1236C>A
ENST00000626637.2:c.*279C>A	ENSP00000486771.1:n.*279C>A
ENST00000638559.1:c.1082C>A
ENST00000638648.1:n.1375C>A
ENST00000638648.2:c.*617C>A	ENSP00000507949.1:n.*617C>A
ENST00000639146.1:c.*617C>A	ENSP00000492345.1:n.*617C>A
ENST00000639335.1:c.*659C>A	ENSP00000491310.1:n.*659C>A
ENST00000639698.1:c.1031C>A	ENSP00000492420.1:n.1031C>A
ENST00000639784.1:c.888C>A
ENST00000640048.1:c.1196C>A	ENSP00000492009.1:n.1196C>A
ENST00000640060.1:c.*1319C>A	ENSP00000492734.1:n.*1319C>A
ENST00000640201.1:n.1488C>A
ENST00000640201.2:n.1619C>A
ENST00000640752.1:n.5427C>A
ENST00000640752.2:n.5434C>A
ENST00000682067.1:c.701C>A
ENST00000682086.1:n.1447C>A
ENST00000682373.1:c.883C>A
ENST00000684696.1:c.*544C>A	ENSP00000507675.1:n.*544C>A
XM_005262972.1:c.*279C>A	XP_005263029.1:n.*279C>A
XR_001741214.2:n.1449C>A
XR_002959727.1:n.1627C>A
XR_938726.1:n.1682C>A