Canonical Allele Identifier: CA1365504350
Gene: CHDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53844081C= , CM000665.2:g.53844081C= GRCh38
NC_000003.11:g.53878108C= , CM000665.1:g.53878108C= GRCh37
NC_000003.10:g.53853148C= NCBI36
NG_028042.1:g.7313G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000315251.11:c.-131+2002G= MANE Select ENSP00000319851.5:n.-131+2002G=
ENST00000315251.10:c.-131+2002G= ENSP00000319851.5:n.-131+2002G=
ENST00000467802.1:c.-131+632G= ENSP00000419863.1:n.-131+632G=
ENST00000481668.5:c.-131+501G= ENSP00000418273.1:n.-131+501G=
NM_018397.4:c.-131+2002G= NP_060867.2:n.-131+2002G=
XM_006713250.2:c.-131+2002G= XP_006713313.1:n.-131+2002G=
XM_006713251.2:c.-131+1741G= XP_006713314.1:n.-131+1741G=
XM_006713252.2:c.-131+2002G= XP_006713315.1:n.-131+2002G=
XM_011533938.1:c.-131+632G= XP_011532240.1:n.-131+632G=
XM_011533939.1:c.-131+762G= XP_011532241.1:n.-131+762G=
XM_006713250.4:c.-131+2002G= XP_006713313.1:n.-131+2002G=
XM_006713251.4:c.-131+1741G= XP_006713314.1:n.-131+1741G=
XM_006713252.4:c.-131+2002G= XP_006713315.1:n.-131+2002G=
XM_011533938.3:c.-131+632G= XP_011532240.1:n.-131+632G=
XM_011533939.3:c.-131+762G= XP_011532241.1:n.-131+762G=
XM_017006797.2:c.-131+632G= XP_016862286.1:n.-131+632G=
XM_017006799.2:c.-131+2002G= XP_016862288.1:n.-131+2002G=
XR_001740199.2:n.382+2002G=
XR_002959545.1:n.382+2002G=
NM_018397.5:c.-131+2002G= MANE Select NP_060867.2:n.-131+2002G=