Canonical Allele Identifier: CA397955271
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8015793-T-C
MyVariant Identifiers: chr17:g.7919111T>C (hg19) chr17:g.8015793T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015793T>C , CM000679.2:g.8015793T>C GRCh38
NC_000017.10:g.7919111T>C , CM000679.1:g.7919111T>C GRCh37
NC_000017.9:g.7859836T>C NCBI36
NG_009092.1:g.18124T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2995T>C MANE Select ENSP00000254854.4:p.Phe999Leu
ENST00000254854.4:c.2995T>C ENSP00000254854.4:p.Phe999Leu
NM_000180.3:c.2995T>C NP_000171.1:p.Phe999Leu
XM_011523816.1:c.2995T>C XP_011522118.1:p.Phe999Leu
NM_000180.4:c.2995T>C MANE Select NP_000171.1:p.Phe999Leu
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