Canonical Allele Identifier: CA2246114470
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012539C= , CM000679.2:g.8012539C= GRCh38
NC_000017.10:g.7915857C= , CM000679.1:g.7915857C= GRCh37
NC_000017.9:g.7856582C= NCBI36
NG_009092.1:g.14870C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2046C= MANE Select ENSP00000254854.4:p.Ile682=
ENST00000254854.4:c.2046C= ENSP00000254854.4:p.Ile682=
NM_000180.3:c.2046C= NP_000171.1:p.Ile682=
XM_011523816.1:c.2046C= XP_011522118.1:p.Ile682=
NM_000180.4:c.2046C= MANE Select NP_000171.1:p.Ile682=
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