Canonical Allele Identifier: CA226055
Gene: GUCY2D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8009554A>G
GRCh37 chr17:g.7912872A>G
Revel Score:
ENST00000254854 (MANE Select) 0.271
gnomAD v2:
17:7912872 A / G
gnomAD v3:
17:8009554 A / G
gnomAD v4:
chr17-8009554-A-G
Joint Max Group AF 0.00001533 (NFE)
Exomes Max Group AF 0.00001543 (NFE)
ClinVar RCV:
RCV000084840
RCV001047568
ClinVar Variation:
98547
dbSNP:
61749756
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8009554A>G , CM000679.2:g.8009554A>G GRCh38
NC_000017.10:g.7912872A>G , CM000679.1:g.7912872A>G GRCh37
NC_000017.9:g.7853597A>G NCBI36
NG_009092.1:g.11885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1717A>G MANE Select ENSP00000254854.4:p.Ile573Val
ENST00000254854.4:c.1717A>G ENSP00000254854.4:p.Ile573Val
NM_000180.3:c.1717A>G NP_000171.1:p.Ile573Val
XM_011523816.1:c.1717A>G XP_011522118.1:p.Ile573Val
NM_000180.4:c.1717A>G MANE Select NP_000171.1:p.Ile573Val
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