Canonical Allele Identifier: CA413007831

Linked Data

dbSNP Id: rs2035751385
gnomAD v3: X-43949974-T-A
gnomAD v4: X-43949974-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949974T>A , CM000685.2:g.43949974T>A GRCh38
NC_000023.10:g.43809220T>A , CM000685.1:g.43809220T>A GRCh37
NC_000023.9:g.43694164T>A NCBI36
NG_009832.1:g.28702A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.227A>T (NDP) MANE Select ENSP00000495972.1:p.Glu76Val
ENST00000647044.1:c.227A>T (NDP) ENSP00000495811.1:p.Glu76Val
ENST00000378062.5:c.227A>T (NDP) ENSP00000367301.5:p.Glu76Val
ENST00000470584.1:n.271A>T (NDP)
NM_000266.3:c.227A>T (NDP) NP_000257.1:p.Glu76Val
NR_046631.1:n.243T>A (NDP-AS1)
NM_000266.4:c.227A>T (NDP) MANE Select NP_000257.1:p.Glu76Val