Canonical Allele Identifier: CA624867891
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1345671480
gnomAD v2: 17-7915941-C-T
gnomAD v3: 17-8012623-C-T
gnomAD v4: 17-8012623-C-T
MyVariant Identifiers: chr17:g.7915941C>T (hg19) chr17:g.8012623C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012623C>T , CM000679.2:g.8012623C>T GRCh38
NC_000017.10:g.7915941C>T , CM000679.1:g.7915941C>T GRCh37
NC_000017.9:g.7856666C>T NCBI36
NG_009092.1:g.14954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+17C>T MANE Select ENSP00000254854.4:n.2113+17C>T
ENST00000254854.4:c.2113+17C>T ENSP00000254854.4:n.2113+17C>T
NM_000180.3:c.2113+17C>T NP_000171.1:n.2113+17C>T
XM_011523816.1:c.2113+17C>T XP_011522118.1:n.2113+17C>T
NM_000180.4:c.2113+17C>T MANE Select NP_000171.1:n.2113+17C>T
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