Canonical Allele Identifier: CA287530915
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2156743
dbSNP Id: rs779224998
gnomAD v2: 17-7915540-C-G
gnomAD v4: 17-8012222-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012222C>G , CM000679.2:g.8012222C>G GRCh38
NC_000017.10:g.7915540C>G , CM000679.1:g.7915540C>G GRCh37
NC_000017.9:g.7856265C>G NCBI36
NG_009092.1:g.14553C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1828C>G MANE Select ENSP00000254854.4:p.Leu610Val
ENST00000254854.4:c.1828C>G ENSP00000254854.4:p.Leu610Val
NM_000180.3:c.1828C>G NP_000171.1:p.Leu610Val
XM_011523816.1:c.1828C>G XP_011522118.1:p.Leu610Val
NM_000180.4:c.1828C>G MANE Select NP_000171.1:p.Leu610Val