Canonical Allele Identifier: CA497953418
Gene: GUCY2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7915890A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012572A>C , CM000679.2:g.8012572A>C GRCh38
NC_000017.10:g.7915890A>C , CM000679.1:g.7915890A>C GRCh37
NC_000017.9:g.7856615A>C NCBI36
NG_009092.1:g.14903A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2079A>C MANE Select ENSP00000254854.4:p.Ala693=
ENST00000254854.4:c.2079A>C ENSP00000254854.4:p.Ala693=
NM_000180.3:c.2079A>C NP_000171.1:p.Ala693=
XM_011523816.1:c.2079A>C XP_011522118.1:p.Ala693=
NM_000180.4:c.2079A>C MANE Select NP_000171.1:p.Ala693=
Search 100 bp 5'
Search 100 bp 3'