Canonical Allele Identifier: CA10391435

Linked Data

dbSNP Id: rs765862414
gnomAD v2: X-43817726-T-C
gnomAD v4: X-43958480-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958480T>C , CM000685.2:g.43958480T>C GRCh38
NC_000023.10:g.43817726T>C , CM000685.1:g.43817726T>C GRCh37
NC_000023.9:g.43702670T>C NCBI36
NG_009832.1:g.20196A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.166A>G (NDP) MANE Select ENSP00000495972.1:p.Ser56Gly
ENST00000647044.1:c.166A>G (NDP) ENSP00000495811.1:p.Ser56Gly
ENST00000378062.5:c.166A>G (NDP) ENSP00000367301.5:p.Ser56Gly
ENST00000470584.1:n.218+238A>G (NDP)
NM_000266.3:c.166A>G (NDP) NP_000257.1:p.Ser56Gly
NR_046631.1:n.467-2305T>C (NDP-AS1)
NM_000266.4:c.166A>G (NDP) MANE Select NP_000257.1:p.Ser56Gly