Canonical Allele Identifier: CA8412977
Gene: CCDC144A HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16735339T>A , CM000679.2:g.16735339T>A GRCh38
NC_000017.10:g.16638653T>A , CM000679.1:g.16638653T>A GRCh37
NC_000017.9:g.16579378T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000697416.1:c.3068T>A ENSP00000513304.1:p.Ile1023Asn
ENST00000328495.9:n.1519T>A
ENST00000360495.9:c.*574T>A ENSP00000353685.5:n.*574T>A
ENST00000360524.12:c.3068T>A ENSP00000353717.8:p.Ile1023Asn
ENST00000399273.5:c.3068T>A MANE Select ENSP00000382215.1:p.Ile1023Asn
ENST00000448331.7:c.3068T>A ENSP00000440655.2:p.Ile1023Asn
ENST00000470068.2:n.1546T>A
NM_014695.2:c.3068T>A NP_055510.1:p.Ile1023Asn
NR_130142.1:n.2831T>A
XM_005256877.2:c.3068T>A XP_005256934.1:p.Ile1023Asn
XM_006721607.2:c.3068T>A XP_006721670.1:p.Ile1023Asn
XM_017025429.2:c.3116T>A XP_016880918.1:p.Ile1039Asn
XM_017025430.1:c.3068T>A XP_016880919.1:p.Ile1023Asn
XM_024451045.1:c.3116T>A XP_024306813.1:p.Ile1039Asn
XM_024451046.1:c.3116T>A XP_024306814.1:p.Ile1039Asn
XR_001752703.1:n.3020T>A
NM_014695.3:c.3068T>A NP_055510.1:p.Ile1023Asn
NR_130142.2:n.2915T>A
NM_001382000.1:c.3068T>A MANE Select NP_001368929.1:p.Ile1023Asn
NR_167766.1:n.2051+14681T>A