Canonical Allele Identifier: CA255477

Linked Data

ClinVar Variation Id: 10688
dbSNP Id: rs104894878

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949840G>A , CM000685.2:g.43949840G>A GRCh38
NC_000023.10:g.43809086G>A , CM000685.1:g.43809086G>A GRCh37
NC_000023.9:g.43694030G>A NCBI36
NG_009832.1:g.28836C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.361C>T (NDP) MANE Select ENSP00000495972.1:p.Arg121Trp
ENST00000647044.1:c.361C>T (NDP) ENSP00000495811.1:p.Arg121Trp
ENST00000378062.5:c.361C>T (NDP) ENSP00000367301.5:p.Arg121Trp
ENST00000470584.1:n.405C>T (NDP)
NM_000266.3:c.361C>T (NDP) NP_000257.1:p.Arg121Trp
NR_046631.1:n.109G>A (NDP-AS1)
NM_000266.4:c.361C>T (NDP) MANE Select NP_000257.1:p.Arg121Trp