Canonical Allele Identifier: CA357830895
Gene: HADH HGNC NCBI

Linked Data

dbSNP Id: rs4956145

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000507260.3:n.343T>G
ENST00000626637.2:c.269T>G ENSP00000486771.1:p.Leu90Arg
ENST00000638648.2:c.269T>G ENSP00000507949.1:p.Leu90Arg
ENST00000640201.2:n.343T>G
ENST00000640752.2:n.343T>G
ENST00000681992.1:n.294T>G
ENST00000682067.1:c.217T>G
ENST00000682197.1:n.341T>G
ENST00000682373.1:c.201T>G
ENST00000684696.1:c.257T>G ENSP00000507675.1:p.Leu86Arg
ENST00000309522.8:c.257T>G MANE Select ENSP00000312288.4:p.Leu86Arg
ENST00000403312.6:c.257T>G ENSP00000385638.3:p.Leu86Arg
ENST00000505878.4:c.434T>G ENSP00000425952.2:p.Leu145Arg
ENST00000507260.2:n.300T>G
ENST00000638559.1:c.120-4548T>G
ENST00000638621.1:c.133-13591T>G ENSP00000491581.1:n.133-13591T>G
ENST00000638648.1:n.408T>G
ENST00000639146.1:c.257T>G ENSP00000492345.1:p.Leu86Arg
ENST00000639335.1:c.257T>G ENSP00000491310.1:p.Leu86Arg
ENST00000639698.1:c.137T>G ENSP00000492420.1:p.Leu46Arg
ENST00000639784.1:c.121T>G
ENST00000640048.1:c.95T>G ENSP00000492009.1:p.Leu32Arg
ENST00000640060.1:c.*352T>G ENSP00000492734.1:n.*352T>G
ENST00000640201.1:n.212T>G
ENST00000640586.1:c.546T>G
ENST00000640752.1:n.336T>G
ENST00000309522.7:c.257T>G ENSP00000312288.3:p.Leu86Arg
ENST00000403312.5:c.434T>G ENSP00000385638.2:p.Leu145Arg
ENST00000505878.3:c.269T>G ENSP00000425952.1:p.Leu90Arg
ENST00000603302.5:c.257T>G ENSP00000474560.1:p.Leu86Arg
ENST00000626637.1:c.269T>G ENSP00000486771.1:p.Leu90Arg
XM_005262972.1:c.269T>G XP_005263029.1:p.Leu90Arg
XR_938726.1:n.406T>G
XR_001741214.2:n.351T>G
XR_002959727.1:n.351T>G
NM_005327.7:c.257T>G MANE Select NP_005318.6:p.Leu86Arg
NM_001184705.4:c.257T>G NP_001171634.3:p.Leu86Arg
NM_001331027.2:c.269T>G NP_001317956.2:p.Leu90Arg