Canonical Allele Identifier: CA3037416
Community Standard Title: NM_005327.7(HADH):c.264C>T (p.Ala88=)
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108014433C>T , CM000666.2:g.108014433C>T GRCh38
NC_000004.11:g.108935589C>T , CM000666.1:g.108935589C>T GRCh37
NC_000004.10:g.109155038C>T NCBI36
NG_008156.2:g.29650C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.264C>T MANE Select NP_005318.6:p.Ala88=
ENST00000309522.8:c.264C>T MANE Select ENSP00000312288.4:p.Ala88=
NM_001184705.2:c.264C>T NP_001171634.2:p.Ala88=
NM_001184705.3:c.264C>T NP_001171634.2:p.Ala88=
NM_001184705.4:c.264C>T NP_001171634.3:p.Ala88=
NM_001331027.1:c.276C>T NP_001317956.1:p.Ala92=
NM_001331027.2:c.276C>T NP_001317956.2:p.Ala92=
NM_005327.4:c.264C>T NP_005318.3:p.Ala88=
ENST00000309522.7:c.264C>T ENSP00000312288.3:p.Ala88=
ENST00000403312.5:c.441C>T ENSP00000385638.2:p.Ala147=
ENST00000403312.6:c.264C>T ENSP00000385638.3:p.Ala88=
ENST00000505878.3:c.276C>T ENSP00000425952.1:p.Ala92=
ENST00000505878.4:c.441C>T ENSP00000425952.2:p.Ala147=
ENST00000507260.2:n.307C>T
ENST00000507260.3:n.350C>T
ENST00000603302.5:c.264C>T ENSP00000474560.1:p.Ala88=
ENST00000626637.1:c.276C>T ENSP00000486771.1:p.Ala92=
ENST00000626637.2:c.276C>T ENSP00000486771.1:p.Ala92=
ENST00000638559.1:c.122C>T
ENST00000638621.1:c.133-9041C>T ENSP00000491581.1:n.133-9041C>T
ENST00000638648.1:n.415C>T
ENST00000638648.2:c.276C>T ENSP00000507949.1:p.Ala92=
ENST00000639146.1:c.264C>T ENSP00000492345.1:p.Ala88=
ENST00000639335.1:c.264C>T ENSP00000491310.1:p.Ala88=
ENST00000639698.1:c.144C>T ENSP00000492420.1:p.Ala48=
ENST00000639784.1:c.128C>T
ENST00000640048.1:c.102C>T ENSP00000492009.1:p.Ala34=
ENST00000640060.1:c.*359C>T ENSP00000492734.1:n.*359C>T
ENST00000640201.1:n.219C>T
ENST00000640201.2:n.350C>T
ENST00000640586.1:c.553C>T
ENST00000640752.1:n.343C>T
ENST00000640752.2:n.350C>T
ENST00000681992.1:n.301C>T
ENST00000682067.1:c.224C>T
ENST00000682197.1:n.348C>T
ENST00000682373.1:c.205+4546C>T
ENST00000684696.1:c.264C>T ENSP00000507675.1:p.Ala88=
XM_005262972.1:c.276C>T XP_005263029.1:p.Ala92=
XR_001741214.2:n.358C>T
XR_002959727.1:n.358C>T
XR_938726.1:n.413C>T