Canonical Allele Identifier: CA2246053518
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003570C= , CM000679.2:g.8003570C= GRCh38
NC_000017.10:g.7906888C= , CM000679.1:g.7906888C= GRCh37
NC_000017.9:g.7847613C= NCBI36
NG_009092.1:g.5901C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.523C= MANE Select ENSP00000254854.4:p.Leu175=
ENST00000254854.4:c.523C= ENSP00000254854.4:p.Leu175=
NM_000180.3:c.523C= NP_000171.1:p.Leu175=
XM_011523816.1:c.523C= XP_011522118.1:p.Leu175=
NM_000180.4:c.523C= MANE Select NP_000171.1:p.Leu175=
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