Canonical Allele Identifier: CA2635954624
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8015601-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015601G>A , CM000679.2:g.8015601G>A GRCh38
NC_000017.10:g.7918919G>A , CM000679.1:g.7918919G>A GRCh37
NC_000017.9:g.7859644G>A NCBI36
NG_009092.1:g.17932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2944+99G>A MANE Select ENSP00000254854.4:n.2944+99G>A
ENST00000254854.4:c.2944+99G>A ENSP00000254854.4:n.2944+99G>A
NM_000180.3:c.2944+99G>A NP_000171.1:n.2944+99G>A
XM_011523816.1:c.2944+99G>A XP_011522118.1:n.2944+99G>A
NM_000180.4:c.2944+99G>A MANE Select NP_000171.1:n.2944+99G>A
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