Canonical Allele Identifier: CA981230118
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v3: 17-8011992-A-T
gnomAD v4: 17-8011992-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8011992A>T , CM000679.2:g.8011992A>T GRCh38
NC_000017.10:g.7915310A>T , CM000679.1:g.7915310A>T GRCh37
NC_000017.9:g.7856035A>T NCBI36
NG_009092.1:g.14323A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1750-152A>T MANE Select ENSP00000254854.4:n.1750-152A>T
ENST00000254854.4:c.1750-152A>T ENSP00000254854.4:n.1750-152A>T
NM_000180.3:c.1750-152A>T NP_000171.1:n.1750-152A>T
XM_011523816.1:c.1750-152A>T XP_011522118.1:n.1750-152A>T
NM_000180.4:c.1750-152A>T MANE Select NP_000171.1:n.1750-152A>T
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