Canonical Allele Identifier: CA1365495684
Gene: CHDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53824514C>G , CM000665.2:g.53824514C>G GRCh38
NC_000003.11:g.53858541C>G , CM000665.1:g.53858541C>G GRCh37
NC_000003.10:g.53833581C>G NCBI36
NG_028042.1:g.26880G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315251.11:c.-59-447G>C MANE Select ENSP00000319851.5:n.-59-447G>C
ENST00000315251.10:c.-59-447G>C ENSP00000319851.5:n.-59-447G>C
ENST00000467802.1:c.-59-447G>C ENSP00000419863.1:n.-59-447G>C
ENST00000481668.5:c.-59-447G>C ENSP00000418273.1:n.-59-447G>C
NM_018397.4:c.-59-447G>C NP_060867.2:n.-59-447G>C
XM_006713250.2:c.-59-447G>C XP_006713313.1:n.-59-447G>C
XM_006713251.2:c.-59-447G>C XP_006713314.1:n.-59-447G>C
XM_006713252.2:c.-59-447G>C XP_006713315.1:n.-59-447G>C
XM_011533938.1:c.-59-447G>C XP_011532240.1:n.-59-447G>C
XM_011533939.1:c.-59-447G>C XP_011532241.1:n.-59-447G>C
XM_006713250.4:c.-59-447G>C XP_006713313.1:n.-59-447G>C
XM_006713251.4:c.-59-447G>C XP_006713314.1:n.-59-447G>C
XM_006713252.4:c.-59-447G>C XP_006713315.1:n.-59-447G>C
XM_011533938.3:c.-59-447G>C XP_011532240.1:n.-59-447G>C
XM_011533939.3:c.-59-447G>C XP_011532241.1:n.-59-447G>C
XM_017006797.2:c.-59-447G>C XP_016862286.1:n.-59-447G>C
XM_017006798.2:c.-59-447G>C XP_016862287.1:n.-59-447G>C
XM_017006799.2:c.-59-447G>C XP_016862288.1:n.-59-447G>C
XR_001740199.2:n.454-447G>C
XR_002959545.1:n.454-447G>C
NM_018397.5:c.-59-447G>C MANE Select NP_060867.2:n.-59-447G>C