Canonical Allele Identifier: CA241300
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 195030
ClinVar RCV Id: RCV000175542 RCV002056937
dbSNP Id: rs794727237
gnomAD v4: 17-8003566-C-T
MyVariant Identifiers: chr17:g.7906884C>T (hg19) chr17:g.8003566C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003566C>T , CM000679.2:g.8003566C>T GRCh38
NC_000017.10:g.7906884C>T , CM000679.1:g.7906884C>T GRCh37
NC_000017.9:g.7847609C>T NCBI36
NG_009092.1:g.5897C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.519C>T MANE Select ENSP00000254854.4:p.Tyr173=
ENST00000254854.4:c.519C>T ENSP00000254854.4:p.Tyr173=
NM_000180.3:c.519C>T NP_000171.1:p.Tyr173=
XM_011523816.1:c.519C>T XP_011522118.1:p.Tyr173=
NM_000180.4:c.519C>T MANE Select NP_000171.1:p.Tyr173=
Search 100 bp 5'
Search 100 bp 3'