Canonical Allele Identifier: CA16043593

Linked Data

ClinVar Variation Id: 373948
ClinVar RCV Id: RCV000415091
dbSNP Id: rs1057518793
gnomAD v4: X-43949933-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949933G>A , CM000685.2:g.43949933G>A GRCh38
NC_000023.10:g.43809179G>A , CM000685.1:g.43809179G>A GRCh37
NC_000023.9:g.43694123G>A NCBI36
NG_009832.1:g.28743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.268C>T (NDP) MANE Select ENSP00000495972.1:p.Arg90Cys
ENST00000647044.1:c.268C>T (NDP) ENSP00000495811.1:p.Arg90Cys
ENST00000378062.5:c.268C>T (NDP) ENSP00000367301.5:p.Arg90Cys
ENST00000470584.1:n.312C>T (NDP)
NM_000266.3:c.268C>T (NDP) NP_000257.1:p.Arg90Cys
NR_046631.1:n.202G>A (NDP-AS1)
NM_000266.4:c.268C>T (NDP) MANE Select NP_000257.1:p.Arg90Cys