Canonical Allele Identifier: CA413007285

Linked Data

dbSNP Id: rs2147204662
gnomAD v4: X-43949823-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949823A>T , CM000685.2:g.43949823A>T GRCh38
NC_000023.10:g.43809069A>T , CM000685.1:g.43809069A>T GRCh37
NC_000023.9:g.43694013A>T NCBI36
NG_009832.1:g.28853T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.378T>A (NDP) MANE Select ENSP00000495972.1:p.Cys126Ter
ENST00000647044.1:c.378T>A (NDP) ENSP00000495811.1:p.Cys126Ter
ENST00000378062.5:c.378T>A (NDP) ENSP00000367301.5:p.Cys126Ter
ENST00000470584.1:n.422T>A (NDP)
NM_000266.3:c.378T>A (NDP) NP_000257.1:p.Cys126Ter
NR_046631.1:n.92A>T (NDP-AS1)
NM_000266.4:c.378T>A (NDP) MANE Select NP_000257.1:p.Cys126Ter