Canonical Allele Identifier: CA10391429

Linked Data

dbSNP Id: rs112278531
gnomAD v2: X-43817676-T-A
gnomAD v4: X-43958430-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958430T>A , CM000685.2:g.43958430T>A GRCh38
NC_000023.10:g.43817676T>A , CM000685.1:g.43817676T>A GRCh37
NC_000023.9:g.43702620T>A NCBI36
NG_009832.1:g.20246A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.174+42A>T (NDP) MANE Select ENSP00000495972.1:n.174+42A>T
ENST00000647044.1:c.174+42A>T (NDP) ENSP00000495811.1:n.174+42A>T
ENST00000378062.5:c.174+42A>T (NDP) ENSP00000367301.5:n.174+42A>T
ENST00000470584.1:n.218+288A>T (NDP)
NM_000266.3:c.174+42A>T (NDP) NP_000257.1:n.174+42A>T
NR_046631.1:n.467-2355T>A (NDP-AS1)
NM_000266.4:c.174+42A>T (NDP) MANE Select NP_000257.1:n.174+42A>T