Canonical Allele Identifier: CA10616859
Community Standard Title: NM_005327.7(HADH):c.*305T>A
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108034662T>A , CM000666.2:g.108034662T>A GRCh38
NC_000004.11:g.108955818T>A , CM000666.1:g.108955818T>A GRCh37
NC_000004.10:g.109175267T>A NCBI36
NG_008156.2:g.49879T>A

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.*305T>A MANE Select NP_005318.6:n.*305T>A
ENST00000309522.8:c.*305T>A MANE Select ENSP00000312288.4:n.*305T>A
NM_001184705.2:c.*305T>A NP_001171634.2:n.*305T>A
NM_001184705.3:c.*305T>A NP_001171634.2:n.*305T>A
NM_001184705.4:c.*305T>A NP_001171634.3:n.*305T>A
NM_001331027.1:c.*305T>A NP_001317956.1:n.*305T>A
NM_001331027.2:c.*305T>A NP_001317956.2:n.*305T>A
NM_005327.4:c.*305T>A NP_005318.3:n.*305T>A
ENST00000309522.7:c.*305T>A ENSP00000312288.3:n.*305T>A
ENST00000403312.5:c.*305T>A ENSP00000385638.2:n.*305T>A
ENST00000403312.6:c.*305T>A ENSP00000385638.3:n.*305T>A
ENST00000505878.3:c.*305T>A ENSP00000425952.1:n.*305T>A
ENST00000505878.4:c.*305T>A ENSP00000425952.2:n.*305T>A
ENST00000507260.3:n.5769T>A
ENST00000510728.6:n.2369T>A
ENST00000514776.2:n.6098T>A
ENST00000514776.3:n.6098T>A
ENST00000515462.6:n.2746T>A
ENST00000515462.7:n.2746T>A
ENST00000603302.5:c.*305T>A ENSP00000474560.1:n.*305T>A
ENST00000626637.1:c.1262T>A ENSP00000486771.1:n.1262T>A
ENST00000626637.2:c.*305T>A ENSP00000486771.1:n.*305T>A
ENST00000638559.1:c.1108T>A
ENST00000638648.1:n.1401T>A
ENST00000638648.2:c.*643T>A ENSP00000507949.1:n.*643T>A
ENST00000639146.1:c.*643T>A ENSP00000492345.1:n.*643T>A
ENST00000639335.1:c.*685T>A ENSP00000491310.1:n.*685T>A
ENST00000639698.1:c.1057T>A ENSP00000492420.1:n.1057T>A
ENST00000639784.1:c.914T>A
ENST00000640048.1:c.1222T>A ENSP00000492009.1:n.1222T>A
ENST00000640060.1:c.*1345T>A ENSP00000492734.1:n.*1345T>A
ENST00000640201.1:n.1514T>A
ENST00000640201.2:n.1645T>A
ENST00000640752.1:n.5453T>A
ENST00000640752.2:n.5460T>A
ENST00000682067.1:c.727T>A
ENST00000682086.1:n.1473T>A
ENST00000682373.1:c.909T>A
ENST00000684696.1:c.*570T>A ENSP00000507675.1:n.*570T>A
XM_005262972.1:c.*305T>A XP_005263029.1:n.*305T>A
XR_001741214.2:n.1475T>A
XR_002959727.1:n.1653T>A
XR_938726.1:n.1708T>A