Canonical Allele Identifier: CA287533863
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs868564393
gnomAD v3: 17-8015542-C-G
gnomAD v4: 17-8015542-C-G
MyVariant Identifiers: chr17:g.7918860C>G (hg19) chr17:g.8015542C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015542C>G , CM000679.2:g.8015542C>G GRCh38
NC_000017.10:g.7918860C>G , CM000679.1:g.7918860C>G GRCh37
NC_000017.9:g.7859585C>G NCBI36
NG_009092.1:g.17873C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2944+40C>G MANE Select ENSP00000254854.4:n.2944+40C>G
ENST00000254854.4:c.2944+40C>G ENSP00000254854.4:n.2944+40C>G
NM_000180.3:c.2944+40C>G NP_000171.1:n.2944+40C>G
XM_011523816.1:c.2944+40C>G XP_011522118.1:n.2944+40C>G
NM_000180.4:c.2944+40C>G MANE Select NP_000171.1:n.2944+40C>G
Search 100 bp 5'
Search 100 bp 3'