Canonical Allele Identifier: CA2693514481

Linked Data

gnomAD v4: X-43958366-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958366A>C , CM000685.2:g.43958366A>C GRCh38
NC_000023.10:g.43817612A>C , CM000685.1:g.43817612A>C GRCh37
NC_000023.9:g.43702556A>C NCBI36
NG_009832.1:g.20310T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.174+106T>G (NDP) MANE Select ENSP00000495972.1:n.174+106T>G
ENST00000647044.1:c.174+106T>G (NDP) ENSP00000495811.1:n.174+106T>G
ENST00000378062.5:c.174+106T>G (NDP) ENSP00000367301.5:n.174+106T>G
ENST00000470584.1:n.218+352T>G (NDP)
NM_000266.3:c.174+106T>G (NDP) NP_000257.1:n.174+106T>G
NR_046631.1:n.467-2419A>C (NDP-AS1)
NM_000266.4:c.174+106T>G (NDP) MANE Select NP_000257.1:n.174+106T>G