Canonical Allele Identifier: CA516139541

Linked Data

dbSNP Id: rs1388699868
gnomAD v2: X-43809257-T-G
gnomAD v4: X-43950011-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950011T>G , CM000685.2:g.43950011T>G GRCh38
NC_000023.10:g.43809257T>G , CM000685.1:g.43809257T>G GRCh37
NC_000023.9:g.43694201T>G NCBI36
NG_009832.1:g.28665A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.190A>C (NDP) MANE Select ENSP00000495972.1:p.Arg64=
ENST00000647044.1:c.190A>C (NDP) ENSP00000495811.1:p.Arg64=
ENST00000378062.5:c.190A>C (NDP) ENSP00000367301.5:p.Arg64=
ENST00000470584.1:n.234A>C (NDP)
NM_000266.3:c.190A>C (NDP) NP_000257.1:p.Arg64=
NR_046631.1:n.280T>G (NDP-AS1)
NM_000266.4:c.190A>C (NDP) MANE Select NP_000257.1:p.Arg64=