Canonical Allele Identifier: CA226054

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 9350
• ClinVar RCV Id: RCV000009944 ; RCV000084839
• dbSNP Id: rs61749755
• gnomAD v4: 17-8009531-T-C
• MyVariant Identifiers: chr17:g.7912849T>C (hg19) ; chr17:g.8009531T>C (hg38)
• PubMed: PMID:8944027 ; PMID:9683616 ; PMID:9888789

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8009531T>C , CM000679.2:g.8009531T>C	GRCh38
NC_000017.10:g.7912849T>C , CM000679.1:g.7912849T>C	GRCh37
NC_000017.9:g.7853574T>C	NCBI36
NG_009092.1:g.11862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1694T>C MANE Select	ENSP00000254854.4:p.Phe565Ser
ENST00000254854.4:c.1694T>C	ENSP00000254854.4:p.Phe565Ser
NM_000180.3:c.1694T>C	NP_000171.1:p.Phe565Ser
XM_011523816.1:c.1694T>C	XP_011522118.1:p.Phe565Ser
NM_000180.4:c.1694T>C MANE Select	NP_000171.1:p.Phe565Ser