Canonical Allele Identifier: CA226066
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98557
ClinVar RCV Id: RCV000084850
dbSNP Id: rs61750164
MyVariant Identifiers: chr17:g.7915891C>A (hg19) chr17:g.8012573C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012573C>A , CM000679.2:g.8012573C>A GRCh38
NC_000017.10:g.7915891C>A , CM000679.1:g.7915891C>A GRCh37
NC_000017.9:g.7856616C>A NCBI36
NG_009092.1:g.14904C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2080C>A MANE Select ENSP00000254854.4:p.Gln694Lys
ENST00000254854.4:c.2080C>A ENSP00000254854.4:p.Gln694Lys
NM_000180.3:c.2080C>A NP_000171.1:p.Gln694Lys
XM_011523816.1:c.2080C>A XP_011522118.1:p.Gln694Lys
NM_000180.4:c.2080C>A MANE Select NP_000171.1:p.Gln694Lys
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