Canonical Allele Identifier: CA397955073
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8015745-C-A
MyVariant Identifiers: chr17:g.7919063C>A (hg19) chr17:g.8015745C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015745C>A , CM000679.2:g.8015745C>A GRCh38
NC_000017.10:g.7919063C>A , CM000679.1:g.7919063C>A GRCh37
NC_000017.9:g.7859788C>A NCBI36
NG_009092.1:g.18076C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2947C>A MANE Select ENSP00000254854.4:p.Pro983Thr
ENST00000254854.4:c.2947C>A ENSP00000254854.4:p.Pro983Thr
NM_000180.3:c.2947C>A NP_000171.1:p.Pro983Thr
XM_011523816.1:c.2947C>A XP_011522118.1:p.Pro983Thr
NM_000180.4:c.2947C>A MANE Select NP_000171.1:p.Pro983Thr
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