Canonical Allele Identifier: CA397944462
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1011145
ClinVar RCV Id: RCV001308907
dbSNP Id: rs1975680506
MyVariant Identifiers: chr17:g.7906972A>T (hg19) chr17:g.8003654A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003654A>T , CM000679.2:g.8003654A>T GRCh38
NC_000017.10:g.7906972A>T , CM000679.1:g.7906972A>T GRCh37
NC_000017.9:g.7847697A>T NCBI36
NG_009092.1:g.5985A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.607A>T MANE Select ENSP00000254854.4:p.Thr203Ser
ENST00000254854.4:c.607A>T ENSP00000254854.4:p.Thr203Ser
NM_000180.3:c.607A>T NP_000171.1:p.Thr203Ser
XM_011523816.1:c.607A>T XP_011522118.1:p.Thr203Ser
NM_000180.4:c.607A>T MANE Select NP_000171.1:p.Thr203Ser
Search 100 bp 5'
Search 100 bp 3'