Canonical Allele Identifier: CA273351

Linked Data

ClinVar Variation Id: 167326
dbSNP Id: rs727504031

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949981G>A , CM000685.2:g.43949981G>A GRCh38
NC_000023.10:g.43809227G>A , CM000685.1:g.43809227G>A GRCh37
NC_000023.9:g.43694171G>A NCBI36
NG_009832.1:g.28695C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.220C>T (NDP) MANE Select ENSP00000495972.1:p.Arg74Cys
ENST00000647044.1:c.220C>T (NDP) ENSP00000495811.1:p.Arg74Cys
ENST00000378062.5:c.220C>T (NDP) ENSP00000367301.5:p.Arg74Cys
ENST00000470584.1:n.264C>T (NDP)
NM_000266.3:c.220C>T (NDP) NP_000257.1:p.Arg74Cys
NR_046631.1:n.250G>A (NDP-AS1)
NM_000266.4:c.220C>T (NDP) MANE Select NP_000257.1:p.Arg74Cys