Canonical Allele Identifier: CA413007355

Linked Data

ClinVar Variation Id: 2737212
ClinVar RCV Id: RCV003560233
gnomAD v4: X-43949858-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949858G>A , CM000685.2:g.43949858G>A GRCh38
NC_000023.10:g.43809104G>A , CM000685.1:g.43809104G>A GRCh37
NC_000023.9:g.43694048G>A NCBI36
NG_009832.1:g.28818C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.343C>T (NDP) MANE Select ENSP00000495972.1:p.Arg115Ter
ENST00000647044.1:c.343C>T (NDP) ENSP00000495811.1:p.Arg115Ter
ENST00000378062.5:c.343C>T (NDP) ENSP00000367301.5:p.Arg115Ter
ENST00000470584.1:n.387C>T (NDP)
NM_000266.3:c.343C>T (NDP) NP_000257.1:p.Arg115Ter
NR_046631.1:n.127G>A (NDP-AS1)
NM_000266.4:c.343C>T (NDP) MANE Select NP_000257.1:p.Arg115Ter