Canonical Allele Identifier: CA3037391
Community Standard Title: NM_005327.7(HADH):c.240G>A (p.Lys80=)
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108009866G>A , CM000666.2:g.108009866G>A GRCh38
NC_000004.11:g.108931022G>A , CM000666.1:g.108931022G>A GRCh37
NC_000004.10:g.109150471G>A NCBI36
NG_008156.2:g.25083G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.240G>A MANE Select NP_005318.6:p.Lys80=
ENST00000309522.8:c.240G>A MANE Select ENSP00000312288.4:p.Lys80=
NM_001184705.2:c.240G>A NP_001171634.2:p.Lys80=
NM_001184705.3:c.240G>A NP_001171634.2:p.Lys80=
NM_001184705.4:c.240G>A NP_001171634.3:p.Lys80=
NM_001331027.1:c.252G>A NP_001317956.1:p.Lys84=
NM_001331027.2:c.252G>A NP_001317956.2:p.Lys84=
NM_005327.4:c.240G>A NP_005318.3:p.Lys80=
ENST00000309522.7:c.240G>A ENSP00000312288.3:p.Lys80=
ENST00000403312.5:c.417G>A ENSP00000385638.2:p.Lys139=
ENST00000403312.6:c.240G>A ENSP00000385638.3:p.Lys80=
ENST00000505878.3:c.252G>A ENSP00000425952.1:p.Lys84=
ENST00000505878.4:c.417G>A ENSP00000425952.2:p.Lys139=
ENST00000507260.2:n.283G>A
ENST00000507260.3:n.326G>A
ENST00000603302.5:c.240G>A ENSP00000474560.1:p.Lys80=
ENST00000626637.1:c.252G>A ENSP00000486771.1:p.Lys84=
ENST00000626637.2:c.252G>A ENSP00000486771.1:p.Lys84=
ENST00000638559.1:c.120-4565G>A
ENST00000638621.1:c.133-13608G>A ENSP00000491581.1:n.133-13608G>A
ENST00000638648.1:n.391G>A
ENST00000638648.2:c.252G>A ENSP00000507949.1:p.Lys84=
ENST00000639146.1:c.240G>A ENSP00000492345.1:p.Lys80=
ENST00000639335.1:c.240G>A ENSP00000491310.1:p.Lys80=
ENST00000639698.1:c.120G>A ENSP00000492420.1:p.Lys40=
ENST00000639784.1:c.104G>A
ENST00000640048.1:c.78G>A ENSP00000492009.1:p.Lys26=
ENST00000640060.1:c.*335G>A ENSP00000492734.1:n.*335G>A
ENST00000640201.1:n.195G>A
ENST00000640201.2:n.326G>A
ENST00000640586.1:c.529G>A
ENST00000640752.1:n.319G>A
ENST00000640752.2:n.326G>A
ENST00000681992.1:n.277G>A
ENST00000682067.1:c.200G>A
ENST00000682197.1:n.324G>A
ENST00000682373.1:c.184G>A
ENST00000684696.1:c.240G>A ENSP00000507675.1:p.Lys80=
XM_005262972.1:c.252G>A XP_005263029.1:p.Lys84=
XR_001741214.2:n.334G>A
XR_002959727.1:n.334G>A
XR_938726.1:n.389G>A