Canonical Allele Identifier: CA641904888

Linked Data

dbSNP Id: rs1429660328
gnomAD v2: X-43817688-A-G
gnomAD v3: X-43958442-A-G
gnomAD v4: X-43958442-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958442A>G , CM000685.2:g.43958442A>G GRCh38
NC_000023.10:g.43817688A>G , CM000685.1:g.43817688A>G GRCh37
NC_000023.9:g.43702632A>G NCBI36
NG_009832.1:g.20234T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.174+30T>C (NDP) MANE Select ENSP00000495972.1:n.174+30T>C
ENST00000647044.1:c.174+30T>C (NDP) ENSP00000495811.1:n.174+30T>C
ENST00000378062.5:c.174+30T>C (NDP) ENSP00000367301.5:n.174+30T>C
ENST00000470584.1:n.218+276T>C (NDP)
NM_000266.3:c.174+30T>C (NDP) NP_000257.1:n.174+30T>C
NR_046631.1:n.467-2343A>G (NDP-AS1)
NM_000266.4:c.174+30T>C (NDP) MANE Select NP_000257.1:n.174+30T>C