Canonical Allele Identifier: CA398516375
Gene: CCDC144A HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16734719T>A , CM000679.2:g.16734719T>A GRCh38
NC_000017.10:g.16638033T>A , CM000679.1:g.16638033T>A GRCh37
NC_000017.9:g.16578758T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000697416.1:c.2448T>A ENSP00000513304.1:p.Asp816Glu
ENST00000328495.9:n.899T>A
ENST00000360495.9:c.2135T>A ENSP00000353685.5:p.Ile712Asn
ENST00000360524.12:c.2448T>A ENSP00000353717.8:p.Asp816Glu
ENST00000399273.5:c.2448T>A MANE Select ENSP00000382215.1:p.Asp816Glu
ENST00000448331.7:c.2448T>A ENSP00000440655.2:p.Asp816Glu
ENST00000470068.2:n.926T>A
NM_014695.2:c.2448T>A NP_055510.1:p.Asp816Glu
NR_130142.1:n.2211T>A
XM_005256877.2:c.2448T>A XP_005256934.1:p.Asp816Glu
XM_006721607.2:c.2448T>A XP_006721670.1:p.Asp816Glu
XM_017025429.2:c.2496T>A XP_016880918.1:p.Asp832Glu
XM_017025430.1:c.2448T>A XP_016880919.1:p.Asp816Glu
XM_024451045.1:c.2496T>A XP_024306813.1:p.Asp832Glu
XM_024451046.1:c.2496T>A XP_024306814.1:p.Asp832Glu
XR_001752703.1:n.2400T>A
NM_014695.3:c.2448T>A NP_055510.1:p.Asp816Glu
NR_130142.2:n.2295T>A
NM_001382000.1:c.2448T>A MANE Select NP_001368929.1:p.Asp816Glu
NR_167766.1:n.2051+14061T>A