Canonical Allele Identifier: CA8365468

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 444397
• ClinVar RCV Id: RCV000512972 ; RCV000787615 ; RCV001082983 ; RCV003915422
• dbSNP Id: rs557108466
• ExAC: 17:7906439 C / T
• gnomAD v2: 17-7906439-C-T
• gnomAD v3: 17-8003121-C-T
• gnomAD v4: 17-8003121-C-T
• MyVariant Identifiers: chr17:g.7906439C>T (hg19) ; chr17:g.8003121C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8003121C>T , CM000679.2:g.8003121C>T	GRCh38
NC_000017.10:g.7906439C>T , CM000679.1:g.7906439C>T	GRCh37
NC_000017.9:g.7847164C>T	NCBI36
NG_009092.1:g.5452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.74C>T MANE Select	ENSP00000254854.4:p.Ser25Phe
ENST00000254854.4:c.74C>T	ENSP00000254854.4:p.Ser25Phe
NM_000180.3:c.74C>T	NP_000171.1:p.Ser25Phe
XM_011523816.1:c.74C>T	XP_011522118.1:p.Ser25Phe
NM_000180.4:c.74C>T MANE Select	NP_000171.1:p.Ser25Phe