Canonical Allele Identifier: CA8366364
Gene: GUCY2D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8016456G>C
GRCh37 chr17:g.7919774G>C
Revel Score:
ENST00000254854 (MANE Select) 0.554
gnomAD v2:
17:7919774 G / C
gnomAD v3:
17:8016456 G / C
gnomAD v4:
chr17-8016456-G-C
Joint Max Group AF 0.000166 (NFE)
Genomes Max Group AF 0.0000905 (NFE)
Exomes Max Group AF 0.00016638 (NFE)
ClinVar RCV:
RCV001240481
ClinVar Variation:
965924
dbSNP:
371919912
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8016456G>C , CM000679.2:g.8016456G>C GRCh38
NC_000017.10:g.7919774G>C , CM000679.1:g.7919774G>C GRCh37
NC_000017.9:g.7860499G>C NCBI36
NG_009092.1:g.18787G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3238G>C MANE Select ENSP00000254854.4:p.Gly1080Arg
ENST00000254854.4:c.3238G>C ENSP00000254854.4:p.Gly1080Arg
ENST00000574510.1:n.176G>C
NM_000180.3:c.3238G>C NP_000171.1:p.Gly1080Arg
XM_011523816.1:c.3238G>C XP_011522118.1:p.Gly1080Arg
NM_000180.4:c.3238G>C MANE Select NP_000171.1:p.Gly1080Arg
Search 100 bp 5'
Search 100 bp 3'