Canonical Allele Identifier: CA413007840

Linked Data

dbSNP Id: rs1176378943
gnomAD v2: X-43809221-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949975C>G , CM000685.2:g.43949975C>G GRCh38
NC_000023.10:g.43809221C>G , CM000685.1:g.43809221C>G GRCh37
NC_000023.9:g.43694165C>G NCBI36
NG_009832.1:g.28701G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.226G>C (NDP) MANE Select ENSP00000495972.1:p.Glu76Gln
ENST00000647044.1:c.226G>C (NDP) ENSP00000495811.1:p.Glu76Gln
ENST00000378062.5:c.226G>C (NDP) ENSP00000367301.5:p.Glu76Gln
ENST00000470584.1:n.270G>C (NDP)
NM_000266.3:c.226G>C (NDP) NP_000257.1:p.Glu76Gln
NR_046631.1:n.244C>G (NDP-AS1)
NM_000266.4:c.226G>C (NDP) MANE Select NP_000257.1:p.Glu76Gln