Canonical Allele Identifier: CA3037264
Community Standard Title: NC_000004.12:g.107989847G>T
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.107989847G>T , CM000666.2:g.107989847G>T GRCh38
NC_000004.11:g.108911003G>T , CM000666.1:g.108911003G>T GRCh37
NC_000004.10:g.109130452G>T NCBI36
NG_008156.2:g.5064G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001184705.2:c.-86G>T NP_001171634.2:n.-86G>T
NM_005327.4:c.-86G>T NP_005318.3:n.-86G>T
ENST00000309522.7:c.-86G>T ENSP00000312288.3:n.-86G>T
ENST00000403312.5:c.92G>T ENSP00000385638.2:p.Arg31Leu
ENST00000505878.4:c.92G>T ENSP00000425952.2:p.Arg31Leu
ENST00000507260.3:n.1G>T
ENST00000603302.5:c.-86G>T ENSP00000474560.1:n.-86G>T
ENST00000639146.1:c.-86G>T ENSP00000492345.1:n.-86G>T
ENST00000639335.1:c.-86G>T ENSP00000491310.1:n.-86G>T
ENST00000640201.2:n.1G>T
ENST00000640752.2:n.1G>T
XR_001741214.2:n.9G>T
XR_002959727.1:n.9G>T
XR_938726.1:n.64G>T