Canonical Allele Identifier: CA3545383
Gene: NUDCD2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.163459902C>T
GRCh37 chr5:g.162886908C>T
Revel Score:
ENST00000302764 (MANE Select) 0.141
ENST00000517501 0.141
ClinVar RCV:
RCV004293381
ClinVar Variation:
2512989
dbSNP:
756887580
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.163459902C>T , CM000667.2:g.163459902C>T GRCh38
NC_000005.9:g.162886908C>T , CM000667.1:g.162886908C>T GRCh37
NC_000005.8:g.162819486C>T NCBI36
NG_023309.1:g.4392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302764.9:c.149G>A MANE Select ENSP00000304854.3:p.Arg50Gln
ENST00000302764.8:c.149G>A ENSP00000304854.3:p.Arg50Gln
ENST00000517501.1:c.149G>A ENSP00000430347.1:p.Arg50Gln
NM_145266.4:c.149G>A NP_660309.1:p.Arg50Gln
NM_001329991.1:c.-869G>A NP_001316920.1:n.-869G>A
NM_145266.5:c.149G>A NP_660309.1:p.Arg50Gln
NR_138426.1:n.253G>A
NR_138427.1:n.253G>A
NM_145266.6:c.149G>A MANE Select NP_660309.1:p.Arg50Gln
NM_001329991.2:c.-869G>A NP_001316920.1:n.-869G>A
NR_138426.2:n.201G>A
NR_138427.2:n.201G>A
Search 100 bp 5'
Search 100 bp 3'