Canonical Allele Identifier: CA200657
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98558
ClinVar RCV Id: RCV000084851 RCV000173653 RCV001250835 RCV001518412 RCV002498446
dbSNP Id: rs34598902
ExAC: 17:7915912 C / T
gnomAD v2: 17-7915912-C-T
gnomAD v3: 17-8012594-C-T
gnomAD v4: 17-8012594-C-T
MyVariant Identifiers: chr17:g.7915912C>T (hg19) chr17:g.8012594C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012594C>T , CM000679.2:g.8012594C>T GRCh38
NC_000017.10:g.7915912C>T , CM000679.1:g.7915912C>T GRCh37
NC_000017.9:g.7856637C>T NCBI36
NG_009092.1:g.14925C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2101C>T MANE Select ENSP00000254854.4:p.Pro701Ser
ENST00000254854.4:c.2101C>T ENSP00000254854.4:p.Pro701Ser
NM_000180.3:c.2101C>T NP_000171.1:p.Pro701Ser
XM_011523816.1:c.2101C>T XP_011522118.1:p.Pro701Ser
NM_000180.4:c.2101C>T MANE Select NP_000171.1:p.Pro701Ser
Search 100 bp 5'
Search 100 bp 3'