Canonical Allele Identifier: CA3037661

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108034319G>A , CM000666.2:g.108034319G>A	GRCh38
NC_000004.11:g.108955475G>A , CM000666.1:g.108955475G>A	GRCh37
NC_000004.10:g.109174924G>A	NCBI36
NG_008156.2:g.49536G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.907G>A MANE Select	NP_005318.6:p.Gly303Ser
ENST00000309522.8:c.907G>A MANE Select	ENSP00000312288.4:p.Gly303Ser
NM_001184705.2:c.958G>A	NP_001171634.2:p.Gly320Ser
NM_001184705.3:c.958G>A	NP_001171634.2:p.Gly320Ser
NM_001184705.4:c.958G>A	NP_001171634.3:p.Gly320Ser
NM_001331027.1:c.919G>A	NP_001317956.1:p.Gly307Ser
NM_001331027.2:c.919G>A	NP_001317956.2:p.Gly307Ser
NM_005327.4:c.907G>A	NP_005318.3:p.Gly303Ser
ENST00000309522.7:c.907G>A	ENSP00000312288.3:p.Gly303Ser
ENST00000403312.5:c.1135G>A	ENSP00000385638.2:p.Gly379Ser
ENST00000403312.6:c.916G>A	ENSP00000385638.3:p.Gly306Ser
ENST00000505878.3:c.919G>A	ENSP00000425952.1:p.Gly307Ser
ENST00000505878.4:c.1135G>A	ENSP00000425952.2:p.Gly379Ser
ENST00000507260.3:n.5426G>A
ENST00000510728.5:n.578G>A
ENST00000510728.6:n.2026G>A
ENST00000514776.1:n.374G>A
ENST00000514776.2:n.5755G>A
ENST00000514776.3:n.5755G>A
ENST00000515462.5:n.553G>A
ENST00000515462.6:n.2403G>A
ENST00000515462.7:n.2403G>A
ENST00000603302.5:c.958G>A	ENSP00000474560.1:p.Gly320Ser
ENST00000626637.1:c.919G>A	ENSP00000486771.1:p.Gly307Ser
ENST00000626637.2:c.919G>A	ENSP00000486771.1:p.Gly307Ser
ENST00000638559.1:c.765G>A
ENST00000638621.1:c.493G>A	ENSP00000491581.1:p.Gly165Ser
ENST00000638648.1:n.1058G>A
ENST00000638648.2:c.*300G>A	ENSP00000507949.1:n.*300G>A
ENST00000639146.1:c.*300G>A	ENSP00000492345.1:n.*300G>A
ENST00000639335.1:c.*342G>A	ENSP00000491310.1:n.*342G>A
ENST00000639698.1:c.714G>A	ENSP00000492420.1:n.714G>A
ENST00000639784.1:c.571G>A
ENST00000640048.1:c.879G>A	ENSP00000492009.1:n.879G>A
ENST00000640060.1:c.*1002G>A	ENSP00000492734.1:n.*1002G>A
ENST00000640201.1:n.1171G>A
ENST00000640201.2:n.1302G>A
ENST00000640752.1:n.5110G>A
ENST00000640752.2:n.5117G>A
ENST00000682067.1:c.660-276G>A
ENST00000682086.1:n.1285G>A
ENST00000682373.1:c.566G>A
ENST00000684696.1:c.*227G>A	ENSP00000507675.1:n.*227G>A
XM_005262972.1:c.919G>A	XP_005263029.1:p.Gly307Ser
XR_001741214.2:n.1132G>A
XR_002959727.1:n.1310G>A
XR_938726.1:n.1365G>A