Canonical Allele Identifier: CA8365912
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1022425
ClinVar RCV Id: RCV001322331 RCV004035063
dbSNP Id: rs779224998
ExAC: 17:7915540 C / A
gnomAD v2: 17-7915540-C-A
gnomAD v3: 17-8012222-C-A
gnomAD v4: 17-8012222-C-A
MyVariant Identifiers: chr17:g.7915540C>A (hg19) chr17:g.8012222C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012222C>A , CM000679.2:g.8012222C>A GRCh38
NC_000017.10:g.7915540C>A , CM000679.1:g.7915540C>A GRCh37
NC_000017.9:g.7856265C>A NCBI36
NG_009092.1:g.14553C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1828C>A MANE Select ENSP00000254854.4:p.Leu610Ile
ENST00000254854.4:c.1828C>A ENSP00000254854.4:p.Leu610Ile
NM_000180.3:c.1828C>A NP_000171.1:p.Leu610Ile
XM_011523816.1:c.1828C>A XP_011522118.1:p.Leu610Ile
NM_000180.4:c.1828C>A MANE Select NP_000171.1:p.Leu610Ile
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