Canonical Allele Identifier: CA329483973

Linked Data

dbSNP Id: rs865949365
gnomAD v4: X-43950003-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950003C>A , CM000685.2:g.43950003C>A GRCh38
NC_000023.10:g.43809249C>A , CM000685.1:g.43809249C>A GRCh37
NC_000023.9:g.43694193C>A NCBI36
NG_009832.1:g.28673G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.198G>T (NDP) MANE Select ENSP00000495972.1:p.Glu66Asp
ENST00000647044.1:c.198G>T (NDP) ENSP00000495811.1:p.Glu66Asp
ENST00000378062.5:c.198G>T (NDP) ENSP00000367301.5:p.Glu66Asp
ENST00000470584.1:n.242G>T (NDP)
NM_000266.3:c.198G>T (NDP) NP_000257.1:p.Glu66Asp
NR_046631.1:n.272C>A (NDP-AS1)
NM_000266.4:c.198G>T (NDP) MANE Select NP_000257.1:p.Glu66Asp