Canonical Allele Identifier: CA658657397
Community Standard Title: NM_005327.7(HADH):c.257T= (p.Leu86=)
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108009883T= , CM000666.2:g.108009883T= GRCh38
NC_000004.11:g.108931039T= , CM000666.1:g.108931039T= GRCh37
NC_000004.10:g.109150488T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.257T= MANE Select NP_005318.6:p.Leu86=
ENST00000309522.8:c.257T= MANE Select ENSP00000312288.4:p.Leu86=
NM_001184705.4:c.257T= NP_001171634.3:p.Leu86=
NM_001331027.2:c.269T= NP_001317956.2:p.Leu90=
ENST00000309522.7:c.257T= ENSP00000312288.3:p.Leu86=
ENST00000403312.5:c.434T= ENSP00000385638.2:p.Leu145=
ENST00000403312.6:c.257T= ENSP00000385638.3:p.Leu86=
ENST00000505878.3:c.269T= ENSP00000425952.1:p.Leu90=
ENST00000505878.4:c.434T= ENSP00000425952.2:p.Leu145=
ENST00000507260.2:n.300T=
ENST00000507260.3:n.343T=
ENST00000603302.5:c.257T= ENSP00000474560.1:p.Leu86=
ENST00000626637.1:c.269T= ENSP00000486771.1:p.Leu90=
ENST00000626637.2:c.269T= ENSP00000486771.1:p.Leu90=
ENST00000638559.1:c.120-4548T=
ENST00000638621.1:c.133-13591T= ENSP00000491581.1:n.133-13591T=
ENST00000638648.1:n.408T=
ENST00000638648.2:c.269T= ENSP00000507949.1:p.Leu90=
ENST00000639146.1:c.257T= ENSP00000492345.1:p.Leu86=
ENST00000639335.1:c.257T= ENSP00000491310.1:p.Leu86=
ENST00000639698.1:c.137T= ENSP00000492420.1:p.Leu46=
ENST00000639784.1:c.121T=
ENST00000640048.1:c.95T= ENSP00000492009.1:p.Leu32=
ENST00000640060.1:c.*352T= ENSP00000492734.1:n.*352T=
ENST00000640201.1:n.212T=
ENST00000640201.2:n.343T=
ENST00000640586.1:c.546T=
ENST00000640752.1:n.336T=
ENST00000640752.2:n.343T=
ENST00000681992.1:n.294T=
ENST00000682067.1:c.217T=
ENST00000682197.1:n.341T=
ENST00000682373.1:c.201T=
ENST00000684696.1:c.257T= ENSP00000507675.1:p.Leu86=
XM_005262972.1:c.269T= XP_005263029.1:p.Leu90=
XR_001741214.2:n.351T=
XR_002959727.1:n.351T=
XR_938726.1:n.406T=