Canonical Allele Identifier: CA503999422
Gene: DCC HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.52906232C>A
GRCh37 chr18:g.50432602C>A
gnomAD v2:
18:50432602 C / A
gnomAD v3:
18:52906232 C / A
gnomAD v4:
chr18-52906232-C-A
Joint Max Group AF 0.00002553 (AFR)
Genomes Max Group AF 0.00004751 (AFR)
Exomes Max Group AF 0.00000835 (EAS)
dbSNP:
2229080
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.52906232C>A , CM000680.2:g.52906232C>A GRCh38
NC_000018.9:g.50432602C>A , CM000680.1:g.50432602C>A GRCh37
NC_000018.8:g.48686600C>A NCBI36
NG_013341.1:g.571061C>A
NG_013341.2:g.571061C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442544.7:c.601C>A MANE Select ENSP00000389140.2:p.Arg201=
ENST00000304775.12:c.402C>A
ENST00000412726.5:c.532C>A ENSP00000397322.2:p.Arg178=
ENST00000442544.6:c.601C>A ENSP00000389140.2:p.Arg201=
ENST00000579349.1:c.522C>A
ENST00000580024.1:n.514C>A
ENST00000581559.1:c.522C>A ENSP00000463463.1:n.522C>A
NM_005215.3:c.601C>A NP_005206.2:p.Arg201=
XM_011525843.1:c.601C>A XP_011524145.1:p.Arg201=
XM_011525845.1:c.601C>A XP_011524147.1:p.Arg201=
XM_011525846.1:c.601C>A XP_011524148.1:p.Arg201=
XM_017025568.1:c.601C>A XP_016881057.1:p.Arg201=
XM_017025569.1:c.601C>A XP_016881058.1:p.Arg201=
NM_005215.4:c.601C>A MANE Select NP_005206.2:p.Arg201=
Search 100 bp 5'
Search 100 bp 3'