Canonical Allele Identifier: CA413007488

Linked Data

dbSNP Id: rs1473651010
gnomAD v2: X-43809148-G-A
gnomAD v3: X-43949902-G-A
gnomAD v4: X-43949902-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949902G>A , CM000685.2:g.43949902G>A GRCh38
NC_000023.10:g.43809148G>A , CM000685.1:g.43809148G>A GRCh37
NC_000023.9:g.43694092G>A NCBI36
NG_009832.1:g.28774C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.299C>T (NDP) MANE Select ENSP00000495972.1:p.Thr100Ile
ENST00000647044.1:c.299C>T (NDP) ENSP00000495811.1:p.Thr100Ile
ENST00000378062.5:c.299C>T (NDP) ENSP00000367301.5:p.Thr100Ile
ENST00000470584.1:n.343C>T (NDP)
NM_000266.3:c.299C>T (NDP) NP_000257.1:p.Thr100Ile
NR_046631.1:n.171G>A (NDP-AS1)
NM_000266.4:c.299C>T (NDP) MANE Select NP_000257.1:p.Thr100Ile