Canonical Allele Identifier: CA397952512
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7915883T>C (hg19) chr17:g.8012565T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012565T>C , CM000679.2:g.8012565T>C GRCh38
NC_000017.10:g.7915883T>C , CM000679.1:g.7915883T>C GRCh37
NC_000017.9:g.7856608T>C NCBI36
NG_009092.1:g.14896T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2072T>C MANE Select ENSP00000254854.4:p.Leu691Pro
ENST00000254854.4:c.2072T>C ENSP00000254854.4:p.Leu691Pro
NM_000180.3:c.2072T>C NP_000171.1:p.Leu691Pro
XM_011523816.1:c.2072T>C XP_011522118.1:p.Leu691Pro
NM_000180.4:c.2072T>C MANE Select NP_000171.1:p.Leu691Pro
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