Canonical Allele Identifier: CA624867889
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1375678923
gnomAD v2: 17-7915930-A-G
gnomAD v4: 17-8012612-A-G
MyVariant Identifiers: chr17:g.7915930A>G (hg19) chr17:g.8012612A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012612A>G , CM000679.2:g.8012612A>G GRCh38
NC_000017.10:g.7915930A>G , CM000679.1:g.7915930A>G GRCh37
NC_000017.9:g.7856655A>G NCBI36
NG_009092.1:g.14943A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+6A>G MANE Select ENSP00000254854.4:n.2113+6A>G
ENST00000254854.4:c.2113+6A>G ENSP00000254854.4:n.2113+6A>G
NM_000180.3:c.2113+6A>G NP_000171.1:n.2113+6A>G
XM_011523816.1:c.2113+6A>G XP_011522118.1:n.2113+6A>G
NM_000180.4:c.2113+6A>G MANE Select NP_000171.1:n.2113+6A>G
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