Canonical Allele Identifier: CA261136

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108024034G>T , CM000666.2:g.108024034G>T	GRCh38
NC_000004.11:g.108945190G>T , CM000666.1:g.108945190G>T	GRCh37
NC_000004.10:g.109164639G>T	NCBI36
NG_008156.2:g.39251G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.636+471G>T MANE Select	NP_005318.6:n.636+471G>T
ENST00000309522.8:c.636+471G>T MANE Select	ENSP00000312288.4:n.636+471G>T
NM_001184705.2:c.636+471G>T	NP_001171634.2:n.636+471G>T
NM_001184705.3:c.636+471G>T	NP_001171634.2:n.636+471G>T
NM_001184705.4:c.636+471G>T	NP_001171634.3:n.636+471G>T
NM_001331027.1:c.648+471G>T	NP_001317956.1:n.648+471G>T
NM_001331027.2:c.648+471G>T	NP_001317956.2:n.648+471G>T
NM_005327.4:c.636+471G>T	NP_005318.3:n.636+471G>T
ENST00000309522.7:c.636+471G>T	ENSP00000312288.3:n.636+471G>T
ENST00000403312.5:c.813+471G>T	ENSP00000385638.2:n.813+471G>T
ENST00000403312.6:c.636+471G>T	ENSP00000385638.3:n.636+471G>T
ENST00000505878.3:c.648+471G>T	ENSP00000425952.1:n.648+471G>T
ENST00000505878.4:c.813+471G>T	ENSP00000425952.2:n.813+471G>T
ENST00000507260.1:n.336+471G>T
ENST00000507260.2:n.1150G>T
ENST00000507260.3:n.1193G>T
ENST00000603302.5:c.636+471G>T	ENSP00000474560.1:n.636+471G>T
ENST00000626637.1:c.648+471G>T	ENSP00000486771.1:n.648+471G>T
ENST00000626637.2:c.648+471G>T	ENSP00000486771.1:n.648+471G>T
ENST00000638559.1:c.494+471G>T
ENST00000638621.1:c.222+471G>T	ENSP00000491581.1:n.222+471G>T
ENST00000638648.1:n.787+471G>T
ENST00000638648.2:c.648+471G>T	ENSP00000507949.1:n.648+471G>T
ENST00000639146.1:c.636+471G>T	ENSP00000492345.1:n.636+471G>T
ENST00000639335.1:c.*71+471G>T	ENSP00000491310.1:n.*71+471G>T
ENST00000639698.1:c.516+471G>T	ENSP00000492420.1:n.516+471G>T
ENST00000639784.1:c.373+471G>T
ENST00000640048.1:c.475-401G>T	ENSP00000492009.1:n.475-401G>T
ENST00000640060.1:c.*731+471G>T	ENSP00000492734.1:n.*731+471G>T
ENST00000640201.1:n.591+471G>T
ENST00000640201.2:n.722+471G>T
ENST00000640586.1:c.1396G>T
ENST00000640752.1:n.1186G>T
ENST00000640752.2:n.1193G>T
ENST00000682067.1:c.469+471G>T
ENST00000682373.1:c.295+471G>T
ENST00000684696.1:c.636+471G>T	ENSP00000507675.1:n.636+471G>T
XM_005262972.1:c.648+471G>T	XP_005263029.1:n.648+471G>T
XR_001741214.2:n.730+471G>T
XR_002959727.1:n.730+471G>T
XR_938726.1:n.785+471G>T