Canonical Allele Identifier: CA2246113493
Gene: GUCY2D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012153C= , CM000679.2:g.8012153C= GRCh38
NC_000017.10:g.7915471C= , CM000679.1:g.7915471C= GRCh37
NC_000017.9:g.7856196C= NCBI36
NG_009092.1:g.14484C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1759C= MANE Select ENSP00000254854.4:p.Leu587=
ENST00000254854.4:c.1759C= ENSP00000254854.4:p.Leu587=
NM_000180.3:c.1759C= NP_000171.1:p.Leu587=
XM_011523816.1:c.1759C= XP_011522118.1:p.Leu587=
NM_000180.4:c.1759C= MANE Select NP_000171.1:p.Leu587=
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