Canonical Allele Identifier: CA255466

Linked Data

ClinVar Variation Id: 10679
dbSNP Id: rs104894867

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949932C>G , CM000685.2:g.43949932C>G GRCh38
NC_000023.10:g.43809178C>G , CM000685.1:g.43809178C>G GRCh37
NC_000023.9:g.43694122C>G NCBI36
NG_009832.1:g.28744G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.269G>C (NDP) MANE Select ENSP00000495972.1:p.Arg90Pro
ENST00000647044.1:c.269G>C (NDP) ENSP00000495811.1:p.Arg90Pro
ENST00000378062.5:c.269G>C (NDP) ENSP00000367301.5:p.Arg90Pro
ENST00000470584.1:n.313G>C (NDP)
NM_000266.3:c.269G>C (NDP) NP_000257.1:p.Arg90Pro
NR_046631.1:n.201C>G (NDP-AS1)
NM_000266.4:c.269G>C (NDP) MANE Select NP_000257.1:p.Arg90Pro