Canonical Allele Identifier: CA1365504694
Gene: CHDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53844852T= , CM000665.2:g.53844852T= GRCh38
NC_000003.11:g.53878879T= , CM000665.1:g.53878879T= GRCh37
NC_000003.10:g.53853919T= NCBI36
NG_028042.1:g.6542A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000315251.11:c.-131+1231A= MANE Select ENSP00000319851.5:n.-131+1231A=
ENST00000315251.10:c.-131+1231A= ENSP00000319851.5:n.-131+1231A=
NM_018397.4:c.-131+1231A= NP_060867.2:n.-131+1231A=
XM_006713250.2:c.-131+1231A= XP_006713313.1:n.-131+1231A=
XM_006713251.2:c.-131+970A= XP_006713314.1:n.-131+970A=
XM_006713252.2:c.-131+1231A= XP_006713315.1:n.-131+1231A=
XM_011533939.1:c.-140A= XP_011532241.1:n.-140A=
XM_006713250.4:c.-131+1231A= XP_006713313.1:n.-131+1231A=
XM_006713251.4:c.-131+970A= XP_006713314.1:n.-131+970A=
XM_006713252.4:c.-131+1231A= XP_006713315.1:n.-131+1231A=
XM_011533939.3:c.-140A= XP_011532241.1:n.-140A=
XM_017006799.2:c.-131+1231A= XP_016862288.1:n.-131+1231A=
XR_001740199.2:n.382+1231A=
XR_002959545.1:n.382+1231A=
NM_018397.5:c.-131+1231A= MANE Select NP_060867.2:n.-131+1231A=