Canonical Allele Identifier: CA397951662
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 867013
ClinVar RCV Id: RCV001075480
dbSNP Id: rs1336876328
gnomAD v4: 17-8012271-C-G
MyVariant Identifiers: chr17:g.7915589C>G (hg19) chr17:g.8012271C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012271C>G , CM000679.2:g.8012271C>G GRCh38
NC_000017.10:g.7915589C>G , CM000679.1:g.7915589C>G GRCh37
NC_000017.9:g.7856314C>G NCBI36
NG_009092.1:g.14602C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1877C>G MANE Select ENSP00000254854.4:p.Ser626Cys
ENST00000254854.4:c.1877C>G ENSP00000254854.4:p.Ser626Cys
NM_000180.3:c.1877C>G NP_000171.1:p.Ser626Cys
XM_011523816.1:c.1877C>G XP_011522118.1:p.Ser626Cys
NM_000180.4:c.1877C>G MANE Select NP_000171.1:p.Ser626Cys
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