Canonical Allele Identifier: CA397944406
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 974633
ClinVar RCV Id: RCV001250825
dbSNP Id: rs1370721862
gnomAD v4: 17-8003643-G-C
MyVariant Identifiers: chr17:g.7906961G>C (hg19) chr17:g.8003643G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003643G>C , CM000679.2:g.8003643G>C GRCh38
NC_000017.10:g.7906961G>C , CM000679.1:g.7906961G>C GRCh37
NC_000017.9:g.7847686G>C NCBI36
NG_009092.1:g.5974G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.596G>C MANE Select ENSP00000254854.4:p.Arg199Pro
ENST00000254854.4:c.596G>C ENSP00000254854.4:p.Arg199Pro
NM_000180.3:c.596G>C NP_000171.1:p.Arg199Pro
XM_011523816.1:c.596G>C XP_011522118.1:p.Arg199Pro
NM_000180.4:c.596G>C MANE Select NP_000171.1:p.Arg199Pro
Search 100 bp 5'
Search 100 bp 3'