Canonical Allele Identifier: CA241298

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 195029
• ClinVar RCV Id: RCV000175541 ; RCV002056936 ; RCV003917627
• dbSNP Id: rs573367793
• ExAC: 17:7906636 G / C
• gnomAD v2: 17-7906636-G-C
• gnomAD v3: 17-8003318-G-C
• gnomAD v4: 17-8003318-G-C
• MyVariant Identifiers: chr17:g.7906636G>C (hg19) ; chr17:g.8003318G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8003318G>C , CM000679.2:g.8003318G>C	GRCh38
NC_000017.10:g.7906636G>C , CM000679.1:g.7906636G>C	GRCh37
NC_000017.9:g.7847361G>C	NCBI36
NG_009092.1:g.5649G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.271G>C MANE Select	ENSP00000254854.4:p.Ala91Pro
ENST00000254854.4:c.271G>C	ENSP00000254854.4:p.Ala91Pro
NM_000180.3:c.271G>C	NP_000171.1:p.Ala91Pro
XM_011523816.1:c.271G>C	XP_011522118.1:p.Ala91Pro
NM_000180.4:c.271G>C MANE Select	NP_000171.1:p.Ala91Pro