Canonical Allele Identifier: CA413007409

Linked Data

ClinVar Variation Id: 1414252
dbSNP Id: rs1352453369
gnomAD v4: X-43949875-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949875C>T , CM000685.2:g.43949875C>T GRCh38
NC_000023.10:g.43809121C>T , CM000685.1:g.43809121C>T GRCh37
NC_000023.9:g.43694065C>T NCBI36
NG_009832.1:g.28801G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.326G>A (NDP) MANE Select ENSP00000495972.1:p.Arg109Gln
ENST00000647044.1:c.326G>A (NDP) ENSP00000495811.1:p.Arg109Gln
ENST00000378062.5:c.326G>A (NDP) ENSP00000367301.5:p.Arg109Gln
ENST00000470584.1:n.370G>A (NDP)
NM_000266.3:c.326G>A (NDP) NP_000257.1:p.Arg109Gln
NR_046631.1:n.144C>T (NDP-AS1)
NM_000266.4:c.326G>A (NDP) MANE Select NP_000257.1:p.Arg109Gln