Canonical Allele Identifier: CA3037281
Community Standard Title: NC_000004.12:g.107989877C>A
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.107989877C>A , CM000666.2:g.107989877C>A GRCh38
NC_000004.11:g.108911033C>A , CM000666.1:g.108911033C>A GRCh37
NC_000004.10:g.109130482C>A NCBI36
NG_008156.2:g.5094C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001184705.2:c.-56C>A NP_001171634.2:n.-56C>A
NM_005327.4:c.-56C>A NP_005318.3:n.-56C>A
ENST00000309522.7:c.-56C>A ENSP00000312288.3:n.-56C>A
ENST00000403312.5:c.122C>A ENSP00000385638.2:p.Pro41Gln
ENST00000505878.4:c.122C>A ENSP00000425952.2:p.Pro41Gln
ENST00000507260.3:n.31C>A
ENST00000511742.1:c.-56C>A ENSP00000425254.1:n.-56C>A
ENST00000603302.5:c.-56C>A ENSP00000474560.1:n.-56C>A
ENST00000638621.1:c.-56C>A ENSP00000491581.1:n.-56C>A
ENST00000639013.1:n.20C>A
ENST00000639146.1:c.-56C>A ENSP00000492345.1:n.-56C>A
ENST00000639335.1:c.-56C>A ENSP00000491310.1:n.-56C>A
ENST00000640201.2:n.31C>A
ENST00000640752.1:n.24C>A
ENST00000640752.2:n.31C>A
ENST00000682197.1:n.29C>A
ENST00000684696.1:c.-56C>A ENSP00000507675.1:n.-56C>A
XR_001741214.2:n.39C>A
XR_002959727.1:n.39C>A
XR_938726.1:n.94C>A