Canonical Allele Identifier: CA255475

Linked Data

ClinVar Variation Id: 10687
dbSNP Id: rs28933685

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958645T>C , CM000685.2:g.43958645T>C GRCh38
NC_000023.10:g.43817891T>C , CM000685.1:g.43817891T>C GRCh37
NC_000023.9:g.43702835T>C NCBI36
NG_009832.1:g.20031A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.1A>G (NDP) MANE Select ENSP00000495972.1:p.Met1Val
ENST00000647044.1:c.1A>G (NDP) ENSP00000495811.1:p.Met1Val
ENST00000378062.5:c.1A>G (NDP) ENSP00000367301.5:p.Met1Val
ENST00000470584.1:n.218+73A>G (NDP)
NM_000266.3:c.1A>G (NDP) NP_000257.1:p.Met1Val
NR_046631.1:n.467-2140T>C (NDP-AS1)
NM_000266.4:c.1A>G (NDP) MANE Select NP_000257.1:p.Met1Val