Canonical Allele Identifier: CA497952890
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003563-C-A
MyVariant Identifiers: chr17:g.7906881C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003563C>A , CM000679.2:g.8003563C>A GRCh38
NC_000017.10:g.7906881C>A , CM000679.1:g.7906881C>A GRCh37
NC_000017.9:g.7847606C>A NCBI36
NG_009092.1:g.5894C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.516C>A MANE Select ENSP00000254854.4:p.Leu172=
ENST00000254854.4:c.516C>A ENSP00000254854.4:p.Leu172=
NM_000180.3:c.516C>A NP_000171.1:p.Leu172=
XM_011523816.1:c.516C>A XP_011522118.1:p.Leu172=
NM_000180.4:c.516C>A MANE Select NP_000171.1:p.Leu172=
Search 100 bp 5'
Search 100 bp 3'