Canonical Allele Identifier: CA8366258
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 974671
ClinVar RCV Id: RCV001250879
dbSNP Id: rs764954235
ExAC: 17:7918815 A / T
gnomAD v2: 17-7918815-A-T
MyVariant Identifiers: chr17:g.7918815A>T (hg19) chr17:g.8015497A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015497A>T , CM000679.2:g.8015497A>T GRCh38
NC_000017.10:g.7918815A>T , CM000679.1:g.7918815A>T GRCh37
NC_000017.9:g.7859540A>T NCBI36
NG_009092.1:g.17828A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2939A>T MANE Select ENSP00000254854.4:p.His980Leu
ENST00000254854.4:c.2939A>T ENSP00000254854.4:p.His980Leu
NM_000180.3:c.2939A>T NP_000171.1:p.His980Leu
XM_011523816.1:c.2939A>T XP_011522118.1:p.His980Leu
NM_000180.4:c.2939A>T MANE Select NP_000171.1:p.His980Leu
Search 100 bp 5'
Search 100 bp 3'