Canonical Allele Identifier: CA516139475

Linked Data

dbSNP Id: rs1256611817
gnomAD v2: X-43809156-C-T
gnomAD v4: X-43949910-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949910C>T , CM000685.2:g.43949910C>T GRCh38
NC_000023.10:g.43809156C>T , CM000685.1:g.43809156C>T GRCh37
NC_000023.9:g.43694100C>T NCBI36
NG_009832.1:g.28766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.291G>A (NDP) MANE Select ENSP00000495972.1:p.Arg97=
ENST00000647044.1:c.291G>A (NDP) ENSP00000495811.1:p.Arg97=
ENST00000378062.5:c.291G>A (NDP) ENSP00000367301.5:p.Arg97=
ENST00000470584.1:n.335G>A (NDP)
NM_000266.3:c.291G>A (NDP) NP_000257.1:p.Arg97=
NR_046631.1:n.179C>T (NDP-AS1)
NM_000266.4:c.291G>A (NDP) MANE Select NP_000257.1:p.Arg97=