Canonical Allele Identifier: CA10619838
Community Standard Title: NM_005327.7(HADH):c.*59G>A
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108034416G>A , CM000666.2:g.108034416G>A GRCh38
NC_000004.11:g.108955572G>A , CM000666.1:g.108955572G>A GRCh37
NC_000004.10:g.109175021G>A NCBI36
NG_008156.2:g.49633G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.*59G>A MANE Select NP_005318.6:n.*59G>A
ENST00000309522.8:c.*59G>A MANE Select ENSP00000312288.4:n.*59G>A
NM_001184705.2:c.*59G>A NP_001171634.2:n.*59G>A
NM_001184705.3:c.*59G>A NP_001171634.2:n.*59G>A
NM_001184705.4:c.*59G>A NP_001171634.3:n.*59G>A
NM_001331027.1:c.*59G>A NP_001317956.1:n.*59G>A
NM_001331027.2:c.*59G>A NP_001317956.2:n.*59G>A
NM_005327.4:c.*59G>A NP_005318.3:n.*59G>A
ENST00000309522.7:c.*59G>A ENSP00000312288.3:n.*59G>A
ENST00000403312.5:c.*59G>A ENSP00000385638.2:n.*59G>A
ENST00000403312.6:c.*59G>A ENSP00000385638.3:n.*59G>A
ENST00000505878.3:c.*59G>A ENSP00000425952.1:n.*59G>A
ENST00000505878.4:c.*59G>A ENSP00000425952.2:n.*59G>A
ENST00000507260.3:n.5523G>A
ENST00000510728.5:n.675G>A
ENST00000510728.6:n.2123G>A
ENST00000514776.1:n.471G>A
ENST00000514776.2:n.5852G>A
ENST00000514776.3:n.5852G>A
ENST00000515462.5:n.650G>A
ENST00000515462.6:n.2500G>A
ENST00000515462.7:n.2500G>A
ENST00000603302.5:c.*59G>A ENSP00000474560.1:n.*59G>A
ENST00000626637.1:c.1016G>A ENSP00000486771.1:n.1016G>A
ENST00000626637.2:c.*59G>A ENSP00000486771.1:n.*59G>A
ENST00000638559.1:c.862G>A
ENST00000638621.1:c.*59G>A ENSP00000491581.1:n.*59G>A
ENST00000638648.1:n.1155G>A
ENST00000638648.2:c.*397G>A ENSP00000507949.1:n.*397G>A
ENST00000639146.1:c.*397G>A ENSP00000492345.1:n.*397G>A
ENST00000639335.1:c.*439G>A ENSP00000491310.1:n.*439G>A
ENST00000639698.1:c.811G>A ENSP00000492420.1:n.811G>A
ENST00000639784.1:c.668G>A
ENST00000640048.1:c.976G>A ENSP00000492009.1:n.976G>A
ENST00000640060.1:c.*1099G>A ENSP00000492734.1:n.*1099G>A
ENST00000640201.1:n.1268G>A
ENST00000640201.2:n.1399G>A
ENST00000640752.1:n.5207G>A
ENST00000640752.2:n.5214G>A
ENST00000682067.1:c.660-179G>A
ENST00000682086.1:n.1382G>A
ENST00000682373.1:c.663G>A
ENST00000684696.1:c.*324G>A ENSP00000507675.1:n.*324G>A
XM_005262972.1:c.*59G>A XP_005263029.1:n.*59G>A
XR_001741214.2:n.1229G>A
XR_002959727.1:n.1407G>A
XR_938726.1:n.1462G>A