Canonical Allele Identifier: CA226116
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98586
ClinVar RCV Id: RCV000084881 RCV001250853
dbSNP Id: rs61750188
gnomAD v4: 17-8015823-A-T
MyVariant Identifiers: chr17:g.7919141A>T (hg19) chr17:g.8015823A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015823A>T , CM000679.2:g.8015823A>T GRCh38
NC_000017.10:g.7919141A>T , CM000679.1:g.7919141A>T GRCh37
NC_000017.9:g.7859866A>T NCBI36
NG_009092.1:g.18154A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3025A>T MANE Select ENSP00000254854.4:p.Met1009Leu
ENST00000254854.4:c.3025A>T ENSP00000254854.4:p.Met1009Leu
NM_000180.3:c.3025A>T NP_000171.1:p.Met1009Leu
XM_011523816.1:c.3025A>T XP_011522118.1:p.Met1009Leu
NM_000180.4:c.3025A>T MANE Select NP_000171.1:p.Met1009Leu
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