Canonical Allele Identifier: CA2763006712
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108027666G>T , CM000666.2:g.108027666G>T GRCh38
NC_000004.11:g.108948822G>T , CM000666.1:g.108948822G>T GRCh37
NC_000004.10:g.109168271G>T NCBI36
NG_008156.2:g.42883G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507260.3:n.4825G>T
ENST00000510728.6:n.1603G>T
ENST00000514776.3:n.48G>T
ENST00000515462.7:n.1802G>T
ENST00000626637.2:c.649-22G>T ENSP00000486771.1:n.649-22G>T
ENST00000638648.2:c.649-22G>T ENSP00000507949.1:n.649-22G>T
ENST00000640201.2:n.723-22G>T
ENST00000640752.2:n.4825G>T
ENST00000682067.1:c.470-22G>T
ENST00000682086.1:n.684G>T
ENST00000682373.1:c.296-22G>T
ENST00000684696.1:c.637-273G>T ENSP00000507675.1:n.637-273G>T
ENST00000309522.8:c.637-22G>T MANE Select ENSP00000312288.4:n.637-22G>T
ENST00000403312.6:c.637-22G>T ENSP00000385638.3:n.637-22G>T
ENST00000505878.4:c.814-22G>T ENSP00000425952.2:n.814-22G>T
ENST00000514776.2:n.48G>T
ENST00000515462.6:n.1802G>T
ENST00000638559.1:c.495-22G>T
ENST00000638621.1:c.223-22G>T ENSP00000491581.1:n.223-22G>T
ENST00000638648.1:n.788-22G>T
ENST00000639146.1:c.637-22G>T ENSP00000492345.1:n.637-22G>T
ENST00000639335.1:c.*72-22G>T ENSP00000491310.1:n.*72-22G>T
ENST00000639698.1:c.516+4103G>T ENSP00000492420.1:n.516+4103G>T
ENST00000639784.1:c.373+4103G>T
ENST00000640048.1:c.609-22G>T ENSP00000492009.1:n.609-22G>T
ENST00000640060.1:c.*732-22G>T ENSP00000492734.1:n.*732-22G>T
ENST00000640201.1:n.592-22G>T
ENST00000640752.1:n.4818G>T
ENST00000309522.7:c.637-22G>T ENSP00000312288.3:n.637-22G>T
ENST00000403312.5:c.814-22G>T ENSP00000385638.2:n.814-22G>T
ENST00000505878.3:c.649-22G>T ENSP00000425952.1:n.649-22G>T
ENST00000507260.1:n.337-22G>T
ENST00000510728.5:n.155G>T
ENST00000603302.5:c.637-22G>T ENSP00000474560.1:n.637-22G>T
ENST00000626637.1:c.649-22G>T ENSP00000486771.1:n.649-22G>T
NM_001184705.2:c.637-22G>T NP_001171634.2:n.637-22G>T
NM_005327.4:c.637-22G>T NP_005318.3:n.637-22G>T
XM_005262972.1:c.649-22G>T XP_005263029.1:n.649-22G>T
XR_938726.1:n.786-22G>T
NM_001331027.1:c.649-22G>T NP_001317956.1:n.649-22G>T
XR_001741214.2:n.731-22G>T
XR_002959727.1:n.731-22G>T
NM_001184705.3:c.637-22G>T NP_001171634.2:n.637-22G>T
NM_005327.7:c.637-22G>T MANE Select NP_005318.6:n.637-22G>T
NM_001184705.4:c.637-22G>T NP_001171634.3:n.637-22G>T
NM_001331027.2:c.649-22G>T NP_001317956.2:n.649-22G>T