Canonical Allele Identifier: CA413007565

Linked Data

gnomAD v4: X-43949923-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949923C>A , CM000685.2:g.43949923C>A GRCh38
NC_000023.10:g.43809169C>A , CM000685.1:g.43809169C>A GRCh37
NC_000023.9:g.43694113C>A NCBI36
NG_009832.1:g.28753G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.278G>T (NDP) MANE Select ENSP00000495972.1:p.Cys93Phe
ENST00000647044.1:c.278G>T (NDP) ENSP00000495811.1:p.Cys93Phe
ENST00000378062.5:c.278G>T (NDP) ENSP00000367301.5:p.Cys93Phe
ENST00000470584.1:n.322G>T (NDP)
NM_000266.3:c.278G>T (NDP) NP_000257.1:p.Cys93Phe
NR_046631.1:n.192C>A (NDP-AS1)
NM_000266.4:c.278G>T (NDP) MANE Select NP_000257.1:p.Cys93Phe